ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645489452
Gene: CLCN5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
368485
ClinVar RCV Id:
RCV000349680
RCV003736751
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121371.1:p.Val606Met
CA10413928
NM_001127899.4:c.1816G>A