ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825187818
Gene: AQP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3128127
ClinVar RCV Id:
RCV004420030
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000477.1:p.Ser40Cys
CA384771807
NM_000486.5:c.119C>G