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Canonical Allele Identifier: Get Identifier
Gene: NPHP3 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508078.1:p.[Met467del;Thr469_Met485delinsGlnProAla;His487del;Trp489_Leu496delinsProPro]
CA2667739602
ENST00000684294.1:c.1400del