This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: ACVRL1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000446724.1:p.Cys83Tyr
ENST00000547400.5:c.[248G>A;250G=]

ENST00000547400.5:c.[248G>A;251G=]

ENST00000547400.5:c.[248G>A;252G>A]

ENST00000547400.5:c.[248G>A;252G>C]

ENST00000547400.5:c.[248G>A;252G>T]

ENST00000547400.5:c.[248G>A;255C>T]

ENST00000547400.5:c.[248G>A;256T>C]

ENST00000547400.5:c.[248G>A;258G>A]

ENST00000547400.5:c.[248G>A;259C=]

ENST00000547400.5:c.[248G>A;261C=]

ENST00000547400.5:c.[248G>A;261C>T]

ENST00000547400.5:c.[248G>A;262A=]

ENST00000547400.5:c.[248G>A;262A>C]

ENST00000547400.5:c.[248G>A;264G>A]

ENST00000547400.5:c.[248G>A;264G=]

ENST00000547400.5:c.[248G>A;265G=]

ENST00000547400.5:c.[248G>A;267G>A]

ENST00000547400.5:c.[248G>A;267G=]

ENST00000547400.5:c.[248G>A;268C>T;270C>A...

ENST00000547400.5:c.[248G>A;268C>T;270C>G...

ENST00000547400.5:c.[248G>A;270C>A]

ENST00000547400.5:c.[248G>A;270C=]

ENST00000547400.5:c.[248G>A;270C>G]

ENST00000547400.5:c.[248G>A;270C>T]

ENST00000547400.5:c.[248G>A;272G=]

ENST00000547400.5:c.[248G>A;273C=]

ENST00000547400.5:c.[248G>A;273C>T]

ENST00000547400.5:c.[248G>A;274A>C]

ENST00000547400.5:c.[248G>A;274_275delins...

ENST00000547400.5:c.[248G>A;276G>A]

ENST00000547400.5:c.[248G>A;278G=]

ENST00000547400.5:c.[248G>A;279G>A]

ENST00000547400.5:c.[248G>A;279G>C]

ENST00000547400.5:c.[248G>A;279G>T]

ENST00000547400.5:c.[248G>A;280C>A;282C>A...

ENST00000547400.5:c.[248G>A;280C>A;282C>G...

ENST00000547400.5:c.[248G>A;280C=]

ENST00000547400.5:c.[248G>A;281G=]

ENST00000547400.5:c.[248G>A;282C>A]

ENST00000547400.5:c.[248G>A;282C>G]

ENST00000547400.5:c.[248G>A;282C>T]

ENST00000547400.5:c.[248G>A;283C=]

ENST00000547400.5:c.[248G>A;284C=]

ENST00000547400.5:c.[248G>A;285C>A]

ENST00000547400.5:c.[248G>A;285C=]

ENST00000547400.5:c.[248G>A;285C>G]

ENST00000547400.5:c.[248G>A;285C>T]

ENST00000547400.5:c.[248G>A;287C=]

ENST00000547400.5:c.[248G>A;288C>A]

ENST00000547400.5:c.[248G>A;288C=]

ENST00000547400.5:c.[248G>A;288C>G]

ENST00000547400.5:c.[248G>A;288C>T]

ENST00000547400.5:c.[248G>A;289G=]

ENST00000547400.5:c.[248G>A;291G>A]

ENST00000547400.5:c.[248G>A;292T=]

ENST00000547400.5:c.[248G>A;293T=]

ENST00000547400.5:c.[248G>A;294C=]

ENST00000547400.5:c.[248G>A;294C>T]

ENST00000547400.5:c.[248G>A;295G=]

ENST00000547400.5:c.[248G>A;297C>A]

ENST00000547400.5:c.[248G>A;297C=]

ENST00000547400.5:c.[248G>A;297C>G]

ENST00000547400.5:c.[248G>A;297C>T]

ENST00000547400.5:c.[248G>A;299_300delins...

ENST00000547400.5:c.[248G>A;300C=]

ENST00000547400.5:c.[248G>A;300C>T]

ENST00000547400.5:c.[248G>A;301C=]

ENST00000547400.5:c.[248G>A;303C>T]

ENST00000547400.5:c.[248G>A;304T=]

ENST00000547400.5:c.[248G>A;305A=]

ENST00000547400.5:c.[248G>A;306C=]

ENST00000547400.5:c.[248G>A;306C>T]

ENST00000547400.5:c.[248G>A;307T=]

ENST00000547400.5:c.[248G>A;308G=]

ENST00000547400.5:c.[248G>A;309C=]

ENST00000547400.5:c.[248G>A;309C>T]

ENST00000547400.5:c.[248G>A;311G=]

ENST00000547400.5:c.[248G>A;312C=]

ENST00000547400.5:c.[248G>A;312C>T]

ENST00000547400.5:c.[248G>A;312_313delins...

ENST00000547400.5:c.[248G>A;313G=]

ENST00000547400.5:c.[248G>A;314A=]

ENST00000547400.5:c.[248G>A;315C=]

ENST00000547400.5:c.[248G>A;315C>T]

ENST00000547400.5:c.[248G>A;318C>T]

ENST00000547400.5:c.[248G>A;320A=]

ENST00000547400.5:c.[248G>A;321C=]

ENST00000547400.5:c.[248G>A;321C>T]

ENST00000547400.5:c.[248G>A;322C>T;324C>A...

ENST00000547400.5:c.[248G>A;322C>T;324C>G...

ENST00000547400.5:c.[248G>A;324C>A]

ENST00000547400.5:c.[248G>A;324C=]

ENST00000547400.5:c.[248G>A;324C>G]

ENST00000547400.5:c.[248G>A;324C>T]

ENST00000547400.5:c.[248G>A;327C>T]

ENST00000547400.5:c.[248G>A;330C>T]