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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.[Asp513_Ser524delinsGluArgArgSerAlaArgProTrpProTrpAlaAla;Gly526Val;Gly528_Gly530delinsAlaAlaAlaAla;Phe532Pro;Arg534_Glu535delinsSerPro;Ser537Arg;His540_Pro543delinsAlaVal]
CA2657583393
ENST00000445220.7:c.1539del