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
ENSP00000498052.2:p.Lys195Asn
CA168256254
ENST00000650516.2:c.585G>C
CA369684352
ENST00000650516.2:c.585G>T