Allele Registry

Canonical Allele Identifier: PA658668882

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000524957

RCV001696982

ClinVar Variation:

451408

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Arg1001Cys	CA8709419 NM_000334.4:c.3001C>T