Canonical Allele Identifier: PA2828361357
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 225100
ClinVar RCV Id: RCV000210663 RCV003992235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Arg1579Leu
CA358166
NM_001369788.1:c.4736G>T