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Canonical Allele Identifier: Get Identifier
Gene: NPHP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000313169.4:p.[Thr517_Pro518del;Glu520_Pro527del;Ile529_Arg545delinsLeu]
CA2499214948
ENST00000316534.8:c.1547dup