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
NP_060250.2:p.Phe2000Leu
CA371323892
NM_017780.4:c.5998T>C
CA371323897
NM_017780.4:c.6000T>A
CA371323898
NM_017780.4:c.6000T>G