ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139696476
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
945361
ClinVar RCV Id:
RCV001215983
RCV002480707
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Pro857Ser
CA553354
NM_001291594.2:c.2569C>T