Allele Registry

Canonical Allele Identifier: PA658668912

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000518217

RCV000545880

ClinVar Variation:

448275

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Pro1158Leu	CA400618699 NM_000334.4:c.3473C>T