Allele Registry

Canonical Allele Identifier: PA645476045

Gene: ACTA1 HGNC NCBI

ClinVar RCV:

RCV000428933

RCV000755047

RCV000855456

RCV001214452

RCV003517274

ClinVar Variation:

381639

692271

HGVS (amino-acid)	Matching Registered Transcripts
NP_001091.1:p.Gly247Arg	CA16603588 NM_001100.4:c.739G>C CA345146753 NM_001100.4:c.739G>A