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Canonical Allele Identifier: Get Identifier
Gene: CHD8 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000495240.1:p.[Ser2091_Glu2104delinsProAlaProAlaLeuMetArgValArgMetArgArg;Leu2106_Ser2110del;Lys2113_Leu2120del]
CA2695219071
ENST00000646647.2:c.6270del