Canonical Allele Identifier: PA2828361590
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 839506
ClinVar RCV Id: RCV001041278

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001356717.1:p.Lys1839Asn
CA384888264
NM_001369788.1:c.5517A>C
CA384888267
NM_001369788.1:c.5517A>T