Canonical Allele Identifier: PA2826130597
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 870197
ClinVar RCV Id: RCV001089737

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001171455.1:p.Phe1601Leu
CA384880522
NM_001177984.2:c.4801T>C
CA384880533
NM_001177984.2:c.4803T>A
CA384880534
NM_001177984.2:c.4803T>G