Allele Registry

Canonical Allele Identifier: PA915963532

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000508467

RCV001857254

ClinVar Variation:

439372

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Trp274Cys	CA384900449 NM_001077401.2:c.822G>C CA384900451 NM_001077401.2:c.822G>T