Canonical Allele Identifier: PA1139724471
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 962102
ClinVar RCV Id: RCV001235900
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Gly1839Arg
CA384887082
NM_014191.4:c.5515G>A
CA384887084
NM_014191.4:c.5515G>C