Canonical Allele Identifier: PA915963753
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8243
ClinVar RCV Id: RCV000008726 RCV000008727 RCV000522363 RCV002371767
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070869.1:p.Arg411Gln
CA119395
NM_001077401.2:c.1232G>A