Canonical Allele Identifier: PA1139723515
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 976357
ClinVar RCV Id: RCV001253632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Cys1044Arg
CA384892599
NM_014191.4:c.3130T>C