Allele Registry

Canonical Allele Identifier: PA130972

Gene: ACTN1 HGNC NCBI

ClinVar RCV:

RCV000034870

RCV001003910

RCV003556112

ClinVar Variation:

42032

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123476.1:p.Arg738Trp	CA130970 NM_001130004.2:c.2212C>T