ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915956502
Gene: CFH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522442
ClinVar RCV Id:
RCV000625583
RCV003669163
RCV003333088
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001014975.1:p.Asp20Asn
CA343989152
NM_001014975.3:c.58G>A