Canonical Allele Identifier: PA2827292548
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 836368
ClinVar RCV Id: RCV001037482 RCV002275183
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Ala1650Ser
CA384880647
NM_001330260.2:c.4948G>T