Allele Registry

Canonical Allele Identifier: PA093191

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000006282

RCV000206996

RCV000516541

RCV000543491

RCV003147276

RCV003335018

ClinVar Variation:

5919

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Arg675Gln	CA117851 NM_000334.4:c.2024G>A