Allele Registry

Canonical Allele Identifier: PA658800614

Gene: SCN4A HGNC NCBI

ClinVar RCV:

RCV001222363

RCV001707788

RCV004530787

ClinVar Variation:

511129

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Pro954Leu	CA8709460 NM_000334.4:c.2861C>T