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: CLCN2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000400425.2:p.Phe751Leu
CA355446871
ENST00000434054.6:c.2253C>G
CA355446872
ENST00000434054.6:c.2253C>A
CA355446881
ENST00000434054.6:c.2251T>C