ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825571029
Gene: CLCN7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
56890
ClinVar RCV Id:
RCV000050235
RCV000055847
RCV000480176
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001107803.1:p.Tyr75Cys
CA264215
NM_001114331.3:c.224A>G