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
ENSP00000392028.1:p.Arg1749Ser
CA371320832
ENST00000423902.7:c.5247A>C
CA371320833
ENST00000423902.7:c.5247A>T