Canonical Allele Identifier: PA2741813055
Gene: CFH HGNC NCBI

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Amino-acid Alleles

HGVS (amino-acid) Transcript change
NP_000177.2:p.Thr1217del
NM_000186.4:c.3649_3651del

NM_000186.4:c.[3649_3651del;3654T>C]