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Canonical Allele Identifier: Get Identifier
Gene: SHANK2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366155.1:p.[Gly1371_Asp1372delinsVal;Phe1374del;Leu1376_Ala1379delinsVal;Arg1381del;Arg1383_Ser1386delinsIleTrpLeuGlu;Ile1389_Leu1390delinsGlyThr;Gln1392_Thr1400del]
CA2792603588
NM_001379226.1:c.4111_4112insTGTTGGGTGT