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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366155.1:p.[Ala1050_Ala1054delinsPheCysProGlySer;Ser1056_Lys1062delinsArgLeuSerGluAlaGluGlu;Ser1064_Thr1066delinsArgHis;Gln1068_Ser1069delinsSerVal;Ser1071_Ser1075delinsPheValGluLeu;Asn1079_Ser1080insGln]
CA2614838683
NM_001379226.1:c.3147_3148del