Canonical Allele Identifier: PA2827291946
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1462099
ClinVar RCV Id: RCV001968287
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Asp1124Glu
CA6571584
NM_001330260.2:c.3372T>G
CA384894065
NM_001330260.2:c.3372T>A