Canonical Allele Identifier: PA645449120
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 379563
ClinVar RCV Id: RCV000555077 RCV001262687 RCV000994920
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Glu593Asp
CA6571329
NM_014191.4:c.1779G>C
CA385229575
NM_014191.4:c.1779G>T