ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101777
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
96508
ClinVar RCV Id:
RCV000082660
RCV000259061
RCV001145352
RCV001086780
RCV001145353
RCV001145354
RCV002251973
RCV004529870
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Asn386Ser
CA224190
NM_153240.5:c.1157A>G