Canonical Allele Identifier: PA318322
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207142
ClinVar RCV Id: RCV000514951 RCV000703972 RCV002321764 RCV001838987 RCV004537587
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Gly1050Ser
CA318321
NM_014191.4:c.3148G>A