ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573305124
Gene: NPHP3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1427744
ClinVar RCV Id:
RCV001933863
RCV002560571
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_694972.3:p.Pro552Thr
CA2622236
NM_153240.5:c.1654C>A