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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.[Ser979delinsProArg;His982_Pro985delinsAlaValArgAla;Pro987_Gly993delinsValAlaSerThrThrAlaArg;Gly995_Asp996delinsMetAlaArg;Pro998_Leu1000delinsSerArgSer;Phe1002_Gly1006delinsAlaArgAlaArg;Ala1008del]
CA2657583409
ENST00000445220.5:c.2935del