Allele Registry

Canonical Allele Identifier: PA915963832

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000488579

RCV002272257

ClinVar Variation:

426039

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Lys487Thr	CA384905912 NM_001077401.2:c.1460A>C