Canonical Allele Identifier: PA208405
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 212120
ClinVar RCV Id: RCV000194307
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Leu240Pro
CA208402
NM_006920.6:c.719T>C