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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489407.2:p.[Glu606_Leu609delinsSerAlaSerTrp;Thr611_Gly612delinsProAla;Thr614_Leu621delinsProProAlaAlaThrCysCysCys;Ser623del;Val625_Ala627delinsArgCys;Lys629del;Leu631_Val632del;Gly634_Ser636del]
CA2573158312
ENST00000445220.7:c.1816del