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Canonical Allele Identifier: Get Identifier
Gene: NPHP3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000418664.1:p.[Lys8_Leu10delinsAsnAlaGly;Arg11_Ala12insThr;Glu13_Leu25delinsGlyThrSerLysAsnValSerGluAspThrSerArgLys;Glu27del;Glu29_Leu32delinsCysPheArgSer;Ala34_Met39delinsIleProSerAsn]
CA1139658271
ENST00000469232.5:c.24_28del