Allele Registry

Canonical Allele Identifier: PA645453750

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV000265921

RCV000305878

RCV000336274

RCV000360583

RCV000402814

RCV000654673

ClinVar Variation:

324512

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Pro1629Leu	CA8708885 NM_000334.4:c.4886C>T