Allele Registry

Canonical Allele Identifier: PA091116

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000488652

RCV000810385

ClinVar Variation:

426028

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Pro424Thr	CA384903725 NM_000020.3:c.1270C>A