Canonical Allele Identifier: PA2829675753
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 2092053
ClinVar RCV Id: RCV003008111
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_008851.3:p.Tyr1268Cys
CA349054084
NM_006920.6:c.3803A>G