ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139679870
Gene: CFH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
876029
ClinVar RCV Id:
RCV001100408
RCV001100409
RCV001102371
RCV001102372
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000177.2:p.Ala484Val
CA343982108
NM_000186.4:c.1451C>T