ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA334828
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_055917.1:p.Asp753Asn
CA334827
NM_015102.5:c.2257G>A