Canonical Allele Identifier: PA2827775886
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1747263
ClinVar RCV Id: RCV002347223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340883.1:p.Met400del
CA1038848234
NM_001353954.2:c.1200_1202del