Canonical Allele Identifier: PA2827787776
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 579253
ClinVar RCV Id: RCV000702492
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340889.1:p.Ala394Gly
CA349071032
NM_001353960.2:c.1181C>G
CA891842517
NM_001353960.2:c.1181_1182delinsGA