Allele Registry

Canonical Allele Identifier: PA645453402

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000301623

RCV000358802

RCV000393897

RCV000393899

RCV000486439

RCV000766484

RCV001080027

ClinVar Variation:

324540

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Ala488Thr	CA8709830 NM_000334.4:c.1462G>A