Canonical Allele Identifier: PA2499278047
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1056257
ClinVar RCV Id: RCV001365057
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Asp1846Glu
CA384887312
NM_014191.4:c.5538C>G
CA384887325
NM_014191.4:c.5538C>A