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
ENSP00000313169.4:p.Gly343Arg
CA116310
ENST00000316534.8:c.1027G>A
CA348090535
ENST00000316534.8:c.1027G>C