Canonical Allele Identifier: PA284960
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68543
ClinVar RCV Id: RCV000059417 RCV001267274
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Ala1430Pro
CA284958
NM_006920.6:c.4288G>C