This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: NPHP1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000502639.1:p.[Thr400_Pro401del;Glu403_Pro410del;Ile412_Arg428delinsLeu]
CA2499214948
ENST00000676028.1:c.1196dup