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Canonical Allele Identifier: Get Identifier
Gene: NPHP3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000338766.5:p.[Asn553_His559delinsGlnHisThrAspSerPhePro;Val561Cys;Arg563_Ser572delinsLysAlaHisValAsnGln;Ile574_Arg577delinsArgVal;Thr579del;Lys581_Leu582delinsAspTyr]
CA2832542417
ENST00000337331.10:c.1656dup