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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507173.1:p.[Tyr4175_Asp4180delinsLeuHisSerAlaTyrGly;Met4182_Val4184delinsAsnGluCys;Tyr4186Leu;Glu4189_Leu4194delinsArgIleCysTrp;Asp4196_Gly4204delinsProCys]
CA2078629678
ENST00000682944.1:c.12523dup