Canonical Allele Identifier: PA645449483
Gene: SCN8A HGNC NCBI

Linked Data

ClinVar Variation Id: 253292
ClinVar RCV Id: RCV000239729 RCV001091246
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055006.1:p.Leu1621Trp
CA10586297
NM_014191.4:c.4862T>G