ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915956506
Gene: CFH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018021
ClinVar Variation:
16554
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001014975.1:p.Arg127Leu
CA257513
NM_001014975.3:c.380G>T