Allele Registry

Canonical Allele Identifier: PA645453747

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000319375

RCV000489768

RCV000763017

RCV001856911

ClinVar Variation:

280637

427072

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Met1592Ile	CA10603317 NM_000334.4:c.4776G>T CA400615001 NM_000334.4:c.4776G>C CA400615002 NM_000334.4:c.4776G>A