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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011543157.1:p.[Leu1723_Ala1733delinsValCysCysHisArg;Asp1736_Val1737del;Leu1740_Pro1741delinsArg;Gln1743_Asp1748del;Phe1750_Gly1751delinsArgCys]
CA2574908643
XM_011544855.1:c.5167_5168del