Canonical Allele Identifier: PA2827770573
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68601
ClinVar RCV Id: RCV000059478
ClinVar Variation Id: 451108
ClinVar RCV Id: RCV000519717 RCV003992313
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340880.1:p.His928Gln
CA285090
NM_001353951.2:c.2784C>G
CA349061306
NM_001353951.2:c.2784C>A