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: PA915963295

Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 161202

ClinVar RCV Id: RCV000148355 RCV000988853 RCV002371986

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Pro30Ser	CA211326 NM_001077401.2:c.88C>T