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Canonical Allele Identifier: Get Identifier
Gene: AQP2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000447148.1:p.[Leu38Cys;Ser40_Val41del;Gln43_Gly49delinsCysTyrArgLeuProTrpArg;Gly51_Thr54delinsAlaTrpVal;Val56_Gln57del;Leu59_Gly64delinsProTrpTyrArgLeuTrp;His66_Ile67delinsThr]
CA2618690854
ENST00000551526.5:c.112del