ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499235175
Gene: CFH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1032244
ClinVar RCV Id:
RCV001334298
RCV001871860
RCV003449954
RCV003449955
RCV003399118
RCV003449953
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001014975.1:p.His169Arg
CA1305082
NM_001014975.3:c.506A>G