Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA091108

Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426039

ClinVar RCV Id: RCV000488579 RCV002272257

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Lys487Thr	CA384905912 NM_000020.3:c.1460A>C