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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000402944.1:p.[Ser1028_Leu1031del;Gly1033_Ala1037delinsTrp;Arg1039del;Arg1041_Ser1044delinsIleTrpLeuGlu;Ile1047_Leu1048delinsGlyThr;Gln1050_Pro1056del]
CA2792603589
ENST00000424924.5:c.3080dup