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: PSEN1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000452128.1:p.Val83Gly
ENST00000556533.5:c.[248T>G;250C=]

ENST00000556533.5:c.[248T>G;251C=]

ENST00000556533.5:c.[248T>G;252T>A]

ENST00000556533.5:c.[248T>G;252T>C]

ENST00000556533.5:c.[248T>G;252T>G]

ENST00000556533.5:c.[248T>G;252T=]

ENST00000556533.5:c.[248T>G;253G=]

ENST00000556533.5:c.[248T>G;255G>A]

ENST00000556533.5:c.[248T>G;255G>C]

ENST00000556533.5:c.[248T>G;255G>T]

ENST00000556533.5:c.[248T>G;257C=]

ENST00000556533.5:c.[248T>G;258T>A]

ENST00000556533.5:c.[248T>G;258T>C]

ENST00000556533.5:c.[248T>G;258T>G]

ENST00000556533.5:c.[248T>G;259C=]

ENST00000556533.5:c.[248T>G;259C>T;261C>A...

ENST00000556533.5:c.[248T>G;259C>T;261C>G...

ENST00000556533.5:c.[248T>G;261C>A]

ENST00000556533.5:c.[248T>G;261C>G]

ENST00000556533.5:c.[248T>G;261C>T]

ENST00000556533.5:c.[248T>G;263G=]

ENST00000556533.5:c.[248T>G;264C>T]

ENST00000556533.5:c.[248T>G;265A=]

ENST00000556533.5:c.[248T>G;267G=]

ENST00000556533.5:c.[248T>G;268G=]

ENST00000556533.5:c.[248T>G;270G>A]

ENST00000556533.5:c.[248T>G;270G>C]

ENST00000556533.5:c.[248T>G;270G>T]

ENST00000556533.5:c.[248T>G;271G=]

ENST00000556533.5:c.[248T>G;273G>A]

ENST00000556533.5:c.[248T>G;273G>C]

ENST00000556533.5:c.[248T>G;273G>T]