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: PA915963550

Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 617959

ClinVar RCV Id: RCV000755785 RCV001040697 RCV002370004

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Leu302Pro	CA384900900 NM_001077401.2:c.905T>C