Canonical Allele Identifier: PA2827291465
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 838164
ClinVar RCV Id: RCV001039658 RCV001091245 RCV003224518
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Glu713Asp
CA384879692
NM_001330260.2:c.2139A>C
CA384879693
NM_001330260.2:c.2139A>T