Allele Registry

Canonical Allele Identifier: PA119401

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000008735

RCV000008736

RCV000755791

RCV002390098

ClinVar Variation:

8250

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Asp254del	CA119399 NM_000020.3:c.760_762del