Canonical Allele Identifier: PA2580229529
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1983189
ClinVar RCV Id: RCV002770127
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.His992Asp
CA349060197
NM_001353958.2:c.2974C>G