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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.[Asp829_Ser840delinsGluArgArgSerAlaArgProTrpProTrpAlaAla;Gly842Val;Gly844_Gly846delinsAlaAlaAlaAla;Phe848Pro;Arg850_Glu851delinsSerPro;Ser853Arg;His856_Pro859delinsAlaVal]
CA2657583393
ENST00000262795.7:c.2487del