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Canonical Allele Identifier: Get Identifier
Gene: NPHP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000389879.3:p.[Thr461_Pro462del;Glu464_Pro471del;Ile473_Arg489delinsLeu]
CA2499214948
ENST00000445609.7:c.1379dup