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: CLCN5 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000304257.2:p.Phe310Leu
CA413185270
ENST00000307367.2:c.928T>C
CA413185275
ENST00000307367.2:c.930T>A
CA413185276
ENST00000307367.2:c.930T>G