Allele Registry

Canonical Allele Identifier: PA341670

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000020265

RCV001092727

ClinVar Variation:

21152

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Leu689Ile	CA341669 NM_000334.4:c.2065C>A