ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA341430
Gene: CFH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16545
ClinVar RCV Id:
RCV000018011
RCV001843942
RCV002496396
RCV003450644
RCV004528119
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000177.2:p.Ser1191Leu
CA341428
NM_000186.4:c.3572C>T