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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.[Arg458_Ser462delinsGlyAsnPheThr;Val464del;Gly466_Ile470delinsSerPro;Val472_Lys473del;His475Ser;Pro477_Ile483delinsSer;Leu485_Arg487del]
CA2657598759
ENST00000445220.5:c.1372del