Canonical Allele Identifier: PA2827291938
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1208608
ClinVar RCV Id: RCV001576995

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Ser1117Leu
CA6571580
NM_001330260.2:c.3350C>T