Canonical Allele Identifier: PA2827292740
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 962102
ClinVar RCV Id: RCV001235900

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Gly1839Arg
CA384887082
NM_001330260.2:c.5515G>A
CA384887084
NM_001330260.2:c.5515G>C