ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741809932
Gene: CLCN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2584978
ClinVar RCV Id:
RCV003340878
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000074.3:p.His538Pro
CA369646399
NM_000083.3:c.1613A>C