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Canonical Allele Identifier: Get Identifier
Gene: NPHP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000376953.3:p.[Thr516_Pro517del;Glu519_Pro526del;Ile528_Arg544delinsLeu]
CA2499214948
ENST00000393272.7:c.1544dup