Canonical Allele Identifier: PA247506
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 198704
ClinVar RCV Id: RCV000180122 RCV001064976 RCV002265664 RCV002515290 RCV004539692
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000263.2:p.Gly302Glu
CA247505
NM_000272.5:c.905G>A