Canonical Allele Identifier: PA2827787141
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1016118
ClinVar RCV Id: RCV001315081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Lys1974_Asp1975delinsAsn
CA1304837814
NM_001353958.2:c.5922_5924del