Canonical Allele Identifier: PA2827783500
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68552
ClinVar RCV Id: RCV000059426 RCV000188974 RCV000636318
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340886.1:p.Cys1560Arg
CA284979
NM_001353957.2:c.4678T>C