Canonical Allele Identifier: PA1139723464
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 985603
ClinVar RCV Id: RCV001266596
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Arg1003Cys
CA384892097
NM_014191.4:c.3007C>T