Allele Registry

Canonical Allele Identifier: PA915972715

Gene: ACTN1 HGNC NCBI

ClinVar RCV:

RCV000034867

ClinVar Variation:

42029

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123477.1:p.Gln32Lys	CA130961 NM_001130005.2:c.94C>A