ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA355827
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219480
ClinVar RCV Id:
RCV000205530
RCV000261216
RCV000323357
RCV000732437
RCV001094833
RCV002500642
RCV002517369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Arg1255Trp
CA349679
NM_153240.5:c.3763C>T