Allele Registry

Canonical Allele Identifier: PA645430353

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000488581

RCV001851300

ClinVar Variation:

426025

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Leu381Pro	CA384902555 NM_000020.3:c.1142T>C