Canonical Allele Identifier: PA180241
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 167378
ClinVar RCV Id: RCV000153592 RCV000224286 RCV000226496 RCV000280342 RCV000404782 RCV001094788 RCV003224174
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Ala1184Thr
CA180240
NM_153240.5:c.3550G>A