Canonical Allele Identifier: PA658654433
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 444294
ClinVar RCV Id: RCV000512684 RCV001201742
ClinVar Variation Id: 3067144
ClinVar RCV Id: RCV003992833
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Met1760Ile
CA384885163
NM_014191.4:c.5280G>A
CA384885164
NM_014191.4:c.5280G>C
CA384885165
NM_014191.4:c.5280G>T