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
ENSP00000515139.1:p.Val344Leu
CA371300800
ENST00000700671.1:c.1030G>C
CA371300805
ENST00000700671.1:c.1030G>T