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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499270.1:p.[Arg1190_Ser1191delinsAlaValGly;Ser1193His;Ser1195_Gln1200delinsProArgTyrCysAsnSer;Pro1202delinsSerGln;Asn1205_His1214delinsLeuLeuGlnLeuAsnLeuSerThrCysGly;Trp1216_Pro1219delinsAsn]
CA2534072154
ENST00000659264.1:c.3567del