Canonical Allele Identifier: PA318299
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207130
ClinVar RCV Id: RCV000189288 RCV000792213 RCV004528970
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Thr1852Ile
CA318298
NM_014191.4:c.5555C>T