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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000345193.7:p.[Pro1073_Gly1081delinsArgAspHisGluHisHisLeuArgTyr;Arg1083_Arg1092delinsGluHisAspGlyHisLeuHisCysSer;Gly1094_Ser1103delinsArgHisLeuProAlaHisHisProAlaGlu]
CA2573147657
ENST00000338508.9:c.3218_3219del