Allele Registry

Canonical Allele Identifier: PA091125

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000008744

RCV002345234

ClinVar Variation:

8255

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Trp399Ser	CA119410 NM_000020.3:c.1196G>C