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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489407.1:p.[Pro1315dup;Gly1318_Gly1320delinsArgAla;Ser1322Arg;Thr1324_Val1326delinsProArgCys;Ser1328_Ser1331delinsAlaArgProGln;Lys1333Ser;Ser1335_Pro1338delinsAlaValSerHis;Pro1340_Ala1341delinsLeu;Glu1343Leu;Ala1345delinsLeuGln]
CA1139667209
ENST00000445220.5:c.3947del