Allele Registry

Canonical Allele Identifier: PA915963833

Gene: ACVRL1 HGNC NCBI

ClinVar Allele:

373380

ClinVar RCV:

RCV000422770

RCV002393034

RCV002522537

ClinVar Variation:

389897

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.Leu489Pro	CA16606658 NM_001077401.2:c.1466T>C