ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826078096
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_001164560.1:p.Val431Ile
CA88896013
NM_001171089.2:c.1291G>A