ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA092003
Gene: AQP2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000019410
RCV000029343
RCV000803130
ClinVar Variation:
17832
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000477.1:p.Ala147Thr
CA127470
NM_000486.5:c.439G>A