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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489147.2:p.[Pro1189dup;Gly1192_Gly1194delinsArgAla;Ser1196Arg;Thr1198_Val1200delinsProArgCys;Ser1202_Ser1205delinsAlaArgProGln;Lys1207Ser;Ser1209_Pro1212delinsAlaValSerHis;Pro1214_Ala1215delinsLeu;Glu1217Leu;Ala1219delinsLeuGln]
CA1139667209
ENST00000262795.7:c.3569del