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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000499561.1:p.[Pro1283_Gly1291delinsArgAspHisGluHisHisLeuArgTyr;Arg1293_Arg1302delinsGluHisAspGlyHisLeuHisCysSer;Gly1304_Ser1313delinsArgHisLeuProAlaHisHisProAlaGlu]
CA2573147657
ENST00000656230.1:c.3848_3849del