Allele Registry

Canonical Allele Identifier: PA645453346

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV001036702

RCV001696819

ClinVar Variation:

429533

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Asp334Asn	CA8709979 NM_000334.4:c.1000G>A