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: CLCN1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011514084.1:p.Leu172Phe	CA369646741 XM_011515782.2:c.516G>T CA369646742 XM_011515782.2:c.516G>C