ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826842085
Gene: NPHS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1712399
ClinVar RCV Id:
RCV002294654
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001284504.1:p.Pro248Arg
CA343565734
NM_001297575.2:c.743C>G