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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000385844.1:p.[Gly2548_Asp2549del;Leu2551_Pro2553delinsPheCysPhe;Leu2556_Val2561delinsAlaLeuCysThrLeuGln;Pro2563_Ala2565delinsPhe;Ser2567_Lys2569delinsMetProArg;Phe2571_Leu2574delinsIleLysPhePhe;Lys2576_Gly2578delinsLeu]
CA912980203
ENST00000402364.1:c.7643_7646del