ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499235181
Gene: CFH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001014975.1:p.Arg257Cys
CA1305140
NM_001014975.3:c.769C>T