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Canonical Allele Identifier: Get Identifier
Gene: CHD7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000392028.1:p.[Ala1999_Arg2002delinsProLeuProGly;Asp2004Thr;Lys2006_Phe2015delinsAsnLeuMetArgValTrpArgAsnThr;Cys2017_Met2021delinsValValLeuTrpPro;Arg2023_Met2028delinsValGlyGluTyrValGluCys]
CA2573332550
ENST00000423902.7:c.5995del