ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA260120
Gene: AQP2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
35693
ClinVar RCV Id:
RCV000029341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000477.1:p.Cys75Gly
CA260118
NM_000486.5:c.223T>G