Canonical Allele Identifier: PA916036779
Gene: SCN1A HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001340890.1:p.Gly605Ter
NM_001353961.2:c.[1812del;1814G>T;1816T>A...

NM_001353961.2:c.[1812del;1814G>T;1816T>G...

NM_001353961.2:c.1813G>T