ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139679868
Gene: CFH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000177.2:p.Ala473Val
CA1305391
NM_000186.4:c.1418C>T