ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826800286
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194764
ClinVar RCV Id:
RCV000175205
RCV000204681
RCV000392070
RCV001573161
RCV002294061
RCV001093856
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278522.1:p.Asp240Asn
CA334827
NM_001291593.2:c.718G>A