ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499229563
Gene: CFH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001328125
ClinVar Variation:
988143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000177.2:p.Arg1182Lys
CA343987388
NM_000186.4:c.3545G>A