Canonical Allele Identifier: PA285038
Gene: SCN1A HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_008851.3:p.Thr199Arg
NM_006920.6:c.[591del;593T>A;595A>C;597A>...

NM_006920.6:c.[591del;593T>A;595A>T;597A>...

NM_006920.6:c.[591del;593T>A;597A>G;600du...

NM_006920.6:c.[594del;597A>G;600dup]

NM_006920.6:c.596C>G