Canonical Allele Identifier: PA116311
Gene: NPHP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3510
ClinVar RCV Id: RCV000003685 RCV000520742 RCV000537800 RCV000778560 RCV003466797 RCV004018547
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000263.2:p.Gly343Arg
CA116310
NM_000272.5:c.1027G>A
CA348090535
NM_000272.5:c.1027G>C