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Canonical Allele Identifier: Get Identifier
Gene: CHD7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000512218.1:p.[Lys2006_Phe2015delinsAsnLeuMetArgValTrpArgAsnThr;Cys2017_Met2021delinsValValLeuTrpPro;Arg2023_Pro2036delinsValGlyGluTyrValGluCysProSerSerGlnMetMetAsn]
CA2580078848
ENST00000695853.1:c.6018del