ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA235734
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190976
ClinVar RCV Id:
RCV000171147
RCV001058651
RCV002485085
RCV004535163
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055917.1:p.Arg1054Cys
CA235733
NM_015102.5:c.3160C>T