ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826077415
Gene: CLCN2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1432162
ClinVar RCV Id:
RCV001981944
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001164559.1:p.Val387Ile
CA88896013
NM_001171088.2:c.1159G>A