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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_001340883.1:p.Thr199Arg
NM_001353954.2:c.[591del;593T>A;595A>C;59...

NM_001353954.2:c.[591del;593T>A;595A>T;59...

NM_001353954.2:c.[591del;593T>A;597A>G;60...

NM_001353954.2:c.[594del;597A>G;600dup]

NM_001353954.2:c.596C>G