Canonical Allele Identifier: PA1139724321
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 859059
ClinVar RCV Id: RCV001065082
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Pro1719Ala
CA384883967
NM_014191.4:c.5155C>G