ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3079285125
Gene: AQP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000477.1:p.Gly175Trp
CA384774119
NM_000486.5:c.523G>T