Allele Registry

Canonical Allele Identifier: PA091066

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000008733

RCV000008734

RCV000330901

RCV002433448

RCV004547469

ClinVar Variation:

8249

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Arg374Trp	CA119397 NM_000020.3:c.1120C>T