Allele Registry

Canonical Allele Identifier: PA645430285

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000488673

RCV002413347

ClinVar Variation:

426019

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Leu285Pro	CA384900566 NM_000020.3:c.854T>C