Allele Registry

Canonical Allele Identifier: PA658800667

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000654653

RCV000713121

ClinVar Variation:

543801

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Glu1702Lys	CA400614067 NM_000334.4:c.5104G>A