ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092099
Gene: AQP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019414
ClinVar Variation:
17836
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000477.1:p.Glu258Lys
CA127478
NM_000486.5:c.772G>A