Canonical Allele Identifier: PA891866183
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 461348
ClinVar RCV Id: RCV000529875
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Val216Ala
CA385224542
NM_001330260.2:c.647T>C