ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257502
Gene: CFH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000177.2:p.Glu189Ter
NM_000186.4:c.565G>T