Canonical Allele Identifier: PA2826130110
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1035661
ClinVar RCV Id: RCV001338558
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Lys1006Asn
CA236318505
NM_001177984.2:c.3018G>C
CA384892120
NM_001177984.2:c.3018G>T