Canonical Allele Identifier: PA2827783061
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68535
ClinVar RCV Id: RCV000059408 RCV001202491 RCV003352765
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Val1307Met
CA284934
NM_001353957.2:c.3919G>A