Canonical Allele Identifier: PA325211
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 212800
ClinVar RCV Id: RCV000200622 RCV001238032 RCV002372167
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Ala307Glu
CA325209
NM_000020.3:c.920C>A