Canonical Allele Identifier: PA2828361393
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2828198
ClinVar RCV Id: RCV003754390
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Met1604Ile
CA384880581
NM_001369788.1:c.4812G>A
CA384880583
NM_001369788.1:c.4812G>C
CA384880584
NM_001369788.1:c.4812G>T