Canonical Allele Identifier: PA2826800521
Gene: NPHP4 HGNC NCBI

Linked Data

ClinVar Variation Id: 195609
ClinVar RCV Id: RCV000176217 RCV001085756 RCV004539632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001278522.1:p.Asp497Asn
CA242085
NM_001291593.2:c.1489G>A