Canonical Allele Identifier: PA645430380
Gene: ACVRL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 426026
ClinVar RCV Id: RCV000488764 RCV002496883
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000011.2:p.Trp399Arg
CA384902879
NM_000020.3:c.1195T>A
CA384902882
NM_000020.3:c.1195T>C