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Canonical Allele Identifier: Get Identifier
Gene: SCN1A HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Transcript change
ENSP00000407030.2:p.Thr199Arg
ENST00000423058.6:c.[591del;593T>A;595A>C...

ENST00000423058.6:c.[591del;593T>A;595A>T...

ENST00000423058.6:c.[591del;593T>A;597A>G...

ENST00000423058.6:c.[594del;597A>G;600dup...

ENST00000423058.6:c.596C>G