Allele Registry

Canonical Allele Identifier: PA130963

Gene: ACTN1 HGNC NCBI

ClinVar RCV:

RCV000034867

ClinVar Variation:

42029

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123476.1:p.Gln32Lys	CA130961 NM_001130004.2:c.94C>A