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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005277987.1:p.[Ser1749_Leu1752del;Gly1754_Ala1758delinsTrp;Arg1760del;Arg1762_Ser1765delinsIleTrpLeuGlu;Ile1768_Leu1769delinsGlyThr;Gln1771_Pro1777del]
CA2792603589
XM_005277930.2:c.5243dup