Allele Registry

Canonical Allele Identifier: PA645430347

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000488853

RCV000792743

ClinVar Variation:

426024

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Tyr375Cys	CA384902433 NM_000020.3:c.1124A>G