Canonical Allele Identifier: PA2826130104
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1016014
ClinVar RCV Id: RCV001314955 RCV003147611 RCV003147608 RCV003147609 RCV003147610
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Asn995Lys
CA384892045
NM_001177984.2:c.2985C>A
CA384892046
NM_001177984.2:c.2985C>G