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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000469689.2:p.[Pro1662_Gly1670delinsArgAspHisGluHisHisLeuArgTyr;Arg1672_Arg1681delinsGluHisAspGlyHisLeuHisCysSer;Gly1683_Ser1692delinsArgHisLeuProAlaHisHisProAlaGlu]
CA2573147657
ENST00000601538.6:c.4985_4986del