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Canonical Allele Identifier: Get Identifier
Gene: NPHP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502528.1:p.[Thr193_Pro194del;Glu196_Pro203del;Ile205_Arg221delinsLeu]
CA2499214948
ENST00000676091.1:c.575dup