Canonical Allele Identifier: PA149568
Gene: NPHP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 96509
ClinVar RCV Id: RCV000082661 RCV000434124 RCV000987337 RCV001083406 RCV001148319 RCV001148320 RCV002294022
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_694972.3:p.Ala52Thr
CA149567
NM_153240.5:c.154G>A