ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645487380
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
291105
ClinVar RCV Id:
RCV000283485
RCV000343202
RCV000404760
RCV000726607
RCV002502158
RCV004021321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Gly78Val
CA2622679
NM_153240.5:c.233G>T