Canonical Allele Identifier: PA2827292651
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 444294
ClinVar RCV Id: RCV000512684 RCV001201742
ClinVar Variation Id: 3067144
ClinVar RCV Id: RCV003992833
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Met1760Ile
CA384885163
NM_001330260.2:c.5280G>A
CA384885164
NM_001330260.2:c.5280G>C
CA384885165
NM_001330260.2:c.5280G>T