Allele Registry

Canonical Allele Identifier: PA645430439

Gene: ACVRL1 HGNC NCBI

ClinVar Allele:

373380

ClinVar RCV:

RCV000422770

RCV002393034

RCV002522537

ClinVar Variation:

389897

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Leu489Pro	CA16606658 NM_000020.3:c.1466T>C