Allele Registry

Canonical Allele Identifier: PA2573176190

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV002022873

RCV002389032

ClinVar Variation:

1512139

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Arg484Pro	CA384905812 NM_001077401.2:c.1451G>C