Canonical Allele Identifier: PA2827291852
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 207142
ClinVar RCV Id: RCV000514951 RCV000703972 RCV002321764 RCV001838987 RCV004537587
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Gly1050Ser
CA318321
NM_001330260.2:c.3148G>A