ClinGen Allele Registry
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Canonical Allele Identifier:
PA916017848
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286996
ClinVar RCV Id:
RCV001080139
RCV000395711
RCV004535377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Arg772His
CA553438
NM_001291594.2:c.2315G>A