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Canonical Allele Identifier: Get Identifier
Gene: SHANK3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000489407.2:p.[Lys17_Val22delinsGluThrLeuGlnArgArg;Gly24del;Lys26_Ala29delinsProGln;Lys31_Ala32del;Ser34_Gly37delinsArgArg;Glu40_Ile41delinsAlaGln;Leu43_Arg45delinsAla]
CA2657598769
ENST00000445220.7:c.48dup