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: CLCN7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514704.1:p.Phe318Leu
CA394190010
ENST00000699948.1:c.954C>G
CA394190011
ENST00000699948.1:c.954C>A
CA394190018
ENST00000699948.1:c.952T>C