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
XP_011515861.1:p.Glu416Asp
CA371318378
XM_011517559.1:c.1248G>C
CA371318379
XM_011517559.1:c.1248G>T