Allele Registry

Canonical Allele Identifier: PA2825540770

Gene: ACTN3 HGNC NCBI

ClinVar RCV:

RCV001355999

RCV004034452

ClinVar Variation:

1049642

HGVS (amino-acid)	Matching Registered Transcripts
NP_001095.2:p.Phe413Leu	CA6124611 NM_001104.4:c.1237T>C CA6124612 NM_001104.4:c.1239C>A CA381443881 NM_001104.4:c.1239C>G