Allele Registry

Canonical Allele Identifier: PA130966

Gene: ACTN1 HGNC NCBI

ClinVar RCV:

RCV000034868

RCV003556110

ClinVar Variation:

42030

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123476.1:p.Arg752Gln	CA130964 NM_001130004.2:c.2255G>A