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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499475.1:p.[Glu436_Leu439delinsGlyAlaSerTrp;Thr441_Gly442delinsProAla;Thr444_Leu451delinsProProAlaAlaThrCysCysCys;Ser453del;Val455_Ala457delinsArgCys;Lys459_Gly464del]
CA2580615344
ENST00000664402.2:c.1307del