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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000399423.3:p.[Arg1172_Ser1173delinsAlaValGly;Ser1175His;Ser1177_Gln1182delinsProArgTyrCysAsnSer;Pro1184delinsSerGln;Asn1187_His1196delinsLeuLeuGlnLeuAsnLeuSerThrCysGly;Trp1198_Pro1201delinsAsn]
CA2534072154
ENST00000449833.6:c.3513del