Canonical Allele Identifier: PA2828360516
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2817438
ClinVar RCV Id: RCV003754246

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Met524Ile
CA385229104
NM_001369788.1:c.1572G>A
CA385229105
NM_001369788.1:c.1572G>T
CA385229106
NM_001369788.1:c.1572G>C