Allele Registry

Canonical Allele Identifier: PA645453338

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000439261

RCV001861506

ClinVar Variation:

381540

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Leu250Pro	CA16607433 NM_000334.4:c.749T>C