Allele Registry

Canonical Allele Identifier: PA915972717

Gene: ACTN1 HGNC NCBI

ClinVar RCV:

RCV000034869

RCV000851589

RCV003556111

ClinVar Variation:

42031

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123477.1:p.Arg46Gln	CA130967 NM_001130005.2:c.137G>A