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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000507780.1:p.[Glu547_Phe550delinsArgAla;Glu552_Leu554delinsIle;Asn556Arg;Ile559_Ile562delinsAlaGluCys;Cys564del;Trp566_Arg568del;Glu570_Tyr573del;Ser575_Glu576delinsAsn]
CA2697551676
ENST00000683367.1:c.1638dup