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Canonical Allele Identifier: Get Identifier
Gene: NPHP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000402176.1:p.[Thr460_Pro461del;Glu463_Pro470del;Ile472_Arg488delinsLeu]
CA2499214948
ENST00000417665.5:c.1376dup