ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573190291
Gene: CLCN7
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1357517
ClinVar RCV Id:
RCV001878389
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278.1:p.Arg696Gln
CA394185797
NM_001287.6:c.2087G>A