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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000390925.1:p.[Glu174_Phe177delinsArgAla;Glu179_Leu181delinsIle;Asn183Arg;Ile186_Ile189delinsAlaGluCys;Cys191del;Trp193_Arg195del;Glu197_Tyr200del;Ser202_Glu203delinsAsn]
CA2697551676
ENST00000423156.1:c.519dup