Allele Registry

Canonical Allele Identifier: PA104448

Gene: ACTA2 HGNC NCBI

ClinVar RCV:

RCV000019939

RCV000022435

RCV000181027

RCV003352750

ClinVar Variation:

18277

HGVS (amino-acid)	Matching Registered Transcripts
NP_001135417.1:p.Arg258His	CA007026 NM_001141945.2:c.773G>A