Canonical Allele Identifier: PA318304
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207133
ClinVar RCV Id: RCV000546940 RCV000658651 RCV002317157
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Thr1921Pro
CA318303
NM_014191.4:c.5761A>C