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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000345193.6:p.[Pro1074_Gly1082delinsArgAspHisGluHisHisLeuArgTyr;Arg1084_Arg1093delinsGluHisAspGlyHisLeuHisCysSer;Gly1095_Ser1104delinsArgHisLeuProAlaHisHisProAlaGlu]
CA2573147657
ENST00000338508.8:c.3221_3222del