ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580107650
Gene: CFH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002261585
RCV003324010
ClinVar Variation:
1693716
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000177.2:p.Leu1189Phe
CA343987618
NM_000186.4:c.3565C>T