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Canonical Allele Identifier: Get Identifier
Gene: SACS HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000390925.2:p.[Glu585_Thr587delinsAsnThrGln;Thr589_Val590del;Asn592_Gln595delinsCysSerThrThr;Ser597_Lys599delinsArgAla;Ile601_Val604delinsGlySerArgLeu;Gly606_Gln613delinsArgTyrGlnGlyMetTrpMetLeu;Leu614_Thr615insPheSer]
CA2499221988
ENST00000423156.2:c.1752del