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Canonical Allele Identifier: Get Identifier
Gene: CHD7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_016869101.1:p.[Ala2029_Arg2032delinsProLeuProGly;Asp2034Thr;Lys2036_Phe2045delinsAsnLeuMetArgValTrpArgAsnThr;Cys2047_Met2051delinsValValLeuTrpPro;Arg2053_Met2058delinsValGlyGluTyrValGluCys]
CA2573332550
XM_017013612.1:c.6085del