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Canonical Allele Identifier: Get Identifier
Gene: NPHP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502817.1:p.[Thr194_Pro195del;Glu197_Pro204del;Ile206_Arg222delinsLeu]
CA2499214948
ENST00000675067.1:c.578dup