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Canonical Allele Identifier: Get Identifier
Gene: NPHP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502265.1:p.[Thr476_Pro477del;Glu479_Pro486del;Ile488_Arg504delinsLeu]
CA2499214948
ENST00000674677.1:c.1424dup