Allele Registry

Canonical Allele Identifier: PA915963576

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000488872

ClinVar Variation:

426020

HGVS (amino-acid)	Matching Registered Transcripts
NP_001070869.1:p.His312Gln	CA384901143 NM_001077401.2:c.936C>A CA384901156 NM_001077401.2:c.936C>G