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Canonical Allele Identifier: Get Identifier
Gene: NPHP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502475.1:p.[Thr398_Pro399del;Glu401_Pro408del;Ile410_Arg426delinsLeu]
CA2499214948
ENST00000676053.1:c.1190dup