ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092036
Gene: AQP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019406
RCV000029344
RCV000808569
ClinVar Variation:
17828
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000477.1:p.Arg187Cys
CA127464
NM_000486.5:c.559C>T