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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489147.1:p.[Pro1321dup;Gly1324_Gly1326delinsArgAla;Ser1328Arg;Thr1330_Val1332delinsProArgCys;Ser1334_Ser1337delinsAlaArgProGln;Lys1339Ser;Ser1341_Pro1344delinsAlaValSerHis;Pro1346_Ala1347delinsLeu;Glu1349Leu;Ala1351delinsLeuGln]
CA1139667209
ENST00000262795.5:c.3965del