ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825662453
Gene: CLCN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1051620
ClinVar RCV Id:
RCV001359686
RCV003246935
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121370.1:p.Arg408Cys
CA10413848
NM_001127898.4:c.1222C>T