This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: CHD7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000512218.1:p.[Lys2005_Arg2024delinsAsnLeuMetArgValTrpArgAsnThrSerValValLeuTrpProCysValGlyGluTyr;Cys2026_Met2028delinsGluCys;Val2030_Pro2036delinsSerSerGlnMetMetAsn]
CA2695209398
ENST00000695853.1:c.6015_6018del