Canonical Allele Identifier: PA645403016
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 373008
ClinVar RCV Id: RCV000413693
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Gln554His
CA16042368
NM_006920.6:c.1662G>C
CA349068220
NM_006920.6:c.1662G>T