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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507735.1:p.[Asp42delinsThrVal;Ala44_Cys46delinsAspValLys;Gly48_Leu56delinsArgIlePheAlaGluThrGlyPhe;Gly58del;Gly60_Ala65delinsSerGluGlnArgLeuTrp;Arg67_Pro68delinsGlyGly;Gly70_Arg71delinsGluValAsp]
CA2622330603
ENST00000682547.1:c.124del