ClinGen Allele Registry
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Canonical Allele Identifier:
PA658811589
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
500896
ClinVar RCV Id:
RCV000596794
RCV000704076
RCV000764468
RCV003362851
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Ala22Val
CA2622716
NM_153240.5:c.65C>T