Allele Registry

Canonical Allele Identifier: PA658800674

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000602775

RCV000876059

RCV001079138

RCV002528600

ClinVar Variation:

514878

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Pro1823Arg	CA8708743 NM_000334.4:c.5468C>G