Canonical Allele Identifier: PA2827291766
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2763851
ClinVar RCV Id: RCV003590343

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Ala987Val
CA384891907
NM_001330260.2:c.2960C>T