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: PA2825448853

Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1756170

ClinVar RCV Id: RCV002362375 RCV003098419

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Phe231del	CA2580615205 NM_001077401.2:c.692_694del