Canonical Allele Identifier: PA916012198
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 664289
ClinVar RCV Id: RCV000822358 RCV003444110
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Leu1648Phe
CA384880625
NM_014191.4:c.4944G>C
CA384880628
NM_014191.4:c.4944G>T