Canonical Allele Identifier: PA2827291778
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1016014
ClinVar RCV Id: RCV001314955 RCV003147611 RCV003147608 RCV003147609 RCV003147610
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317189.1:p.Asn995Lys
CA384892045
NM_001330260.2:c.2985C>A
CA384892046
NM_001330260.2:c.2985C>G