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_011515859.1:p.Ser1375Arg
CA371324005
XM_011517557.1:c.4123A>C
CA371324011
XM_011517557.1:c.4125T>A
CA371324012
XM_011517557.1:c.4125T>G