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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000400027.2:p.Ser43Arg
CA369684951
ENST00000455478.6:c.127A>C
CA369684965
ENST00000455478.6:c.129T>A
CA369684967
ENST00000455478.6:c.129T>G