ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499229557
Gene: CFH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1163683
ClinVar RCV Id:
RCV001508942
RCV002294464
RCV003451778
RCV003451779
RCV003451780
RCV003456238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000177.2:p.Gln1076Glu
CA1305883
NM_000186.4:c.3226C>G