Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000514704.1:p.Phe143Leu	CA7810794 ENST00000699948.1:c.429C>G CA394192512 ENST00000699948.1:c.429C>A CA394192521 ENST00000699948.1:c.427T>C