Canonical Allele Identifier: PA2828361555
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1200168
ClinVar RCV Id: RCV001565099 RCV001865997 RCV003326154 RCV004536192
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Glu1820Asp
CA384887770
NM_001369788.1:c.5460G>C
CA384887771
NM_001369788.1:c.5460G>T