Canonical Allele Identifier: PA2827292696
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1518768
ClinVar RCV Id: RCV002024111
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Phe1795Leu
CA384885728
NM_001330260.2:c.5383T>C
CA384885746
NM_001330260.2:c.5385C>A
CA384885756
NM_001330260.2:c.5385C>G