Canonical Allele Identifier: PA645487471
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 281413
ClinVar RCV Id: RCV000343363 RCV001553649 RCV001859546 RCV002494815 RCV003236581
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Arg1165Gln
CA2621740
NM_153240.5:c.3494G>A