ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573164287
Gene: CFH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1507082
ClinVar RCV Id:
RCV002009309
RCV002479755
RCV003453958
RCV003453959
RCV003453960
RCV003453961
RCV003161172
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000177.2:p.Thr504Met
CA1305404
NM_000186.4:c.1511C>T