ClinGen Allele Registry
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Canonical Allele Identifier:
PA916017852
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
196138
ClinVar RCV Id:
RCV000176884
RCV000864161
RCV001099939
RCV001101945
RCV001753581
RCV004537416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.His792Arg
CA242973
NM_001291594.2:c.2375A>G