ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580186675
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2241857
ClinVar RCV Id:
RCV002747698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Gly829Ala
CA553376
NM_001291594.2:c.2486G>C