Canonical Allele Identifier: PA2826130722
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1023022
ClinVar RCV Id: RCV001323008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Asp1769Glu
CA384886109
NM_001177984.2:c.5307C>A
CA384886111
NM_001177984.2:c.5307C>G