Allele Registry

Canonical Allele Identifier: PA2499243224

Gene: ACTN3 HGNC NCBI

ClinVar RCV:

RCV001355999

RCV004034452

ClinVar Variation:

1049642

HGVS (amino-acid)	Matching Registered Transcripts
NP_001245300.2:p.Phe456Leu	CA6124611 NM_001258371.3:c.1366T>C CA6124612 NM_001258371.3:c.1368C>A CA381443881 NM_001258371.3:c.1368C>G