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
NP_000074.2:p.Glu983Asp
CA369654319
NM_000083.2:c.2949G>C
CA369654321
NM_000083.2:c.2949G>T