Canonical Allele Identifier: PA645502557
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 297788
ClinVar RCV Id: RCV000290652 RCV000382692 RCV000729809 RCV002059490 RCV004543176
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055917.1:p.Arg1253Gln
CA553479
NM_015102.5:c.3758G>A