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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.[Glu209_Thr211delinsAsnThrGln;Thr213_Val214del;Asn216_Gln219delinsCysSerThrThr;Ser221_Lys223delinsArgAla;Ile225_Val228delinsGlySerArgLeu;Gly230_Gln237delinsArgTyrGlnGlyMetTrpMetLeu;Leu238_Thr239insPheSer]
CA2499221988
ENST00000423156.1:c.624del