ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057450395
Gene: CFH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005005561
ClinVar Variation:
3575718
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000177.2:p.Thr1193Ile
CA343987768
NM_000186.4:c.3578C>T