Allele Registry

Canonical Allele Identifier: PA091126

Gene: ACVRL1 HGNC NCBI

ClinVar RCV:

RCV000008730

RCV001557555

RCV001959004

RCV002390097

ClinVar Variation:

8246

1459447

HGVS (amino-acid)	Matching Registered Transcripts
NP_000011.2:p.Trp50Cys	CA254373 NM_000020.3:c.150G>T CA384897711 NM_000020.3:c.150G>C