Allele Registry

Canonical Allele Identifier: PA1139677202

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV001214233

ClinVar Variation:

943942

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Leu250Arg	CA400637779 NM_000334.4:c.749T>G