ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487472
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
262705
ClinVar RCV Id:
RCV000247835
RCV000524884
RCV001722361
RCV002294206
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Arg1167His
CA2621738
NM_153240.5:c.3500G>A