ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA092721
Gene: CLCN7
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278.1:p.Arg762Trp
CA394185256
NM_001287.6:c.2284C>T