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Canonical Allele Identifier: Get Identifier
Gene: CFH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000177.2:p.[Lys507_Met515del;Ala517_Lys527del;Asn529_Asp533delinsValIleSerGln;Glu535_Cys536delinsLeu]
CA2649644903
NM_000186.4:c.1518del