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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507624.1:p.[Thr2092_Ser2098delinsSerMetTyrSerLeuPhe;Glu2100Gly;His2102_Leu2110delinsAlaSerPheGlyPheAlaIleLys;His2112Asp;Glu2114_Gly2115delinsProArg;Val2117_Ala2118delinsThrSerCys;Leu2120_Phe2121delinsValIle]
CA912980190
ENST00000683270.1:c.6273_6274del