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.Ser612Arg
CA371312312
NM_017780.4:c.1834A>C
CA371312334
NM_017780.4:c.1836T>G
CA371312337
NM_017780.4:c.1836T>A