Canonical Allele Identifier: PA645487405
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 343389
ClinVar RCV Id: RCV000291650 RCV000346668 RCV000381270 RCV000728292 RCV001094792 RCV002520084 RCV003151038 RCV002487509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Pro391Arg
CA2622379
NM_153240.5:c.1172C>G