Allele Registry

Canonical Allele Identifier: PA645430262

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000493276

RCV001865538

ClinVar Variation:

429372

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Arg200Trp	CA236362870 NM_000020.3:c.598C>T