Allele Registry

Canonical Allele Identifier: PA130975

Gene: ACTN1 HGNC NCBI

ClinVar RCV:

RCV000034871

RCV000851847

ClinVar Variation:

42033

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123476.1:p.Glu225Lys	CA130973 NM_001130004.2:c.673G>A