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Canonical Allele Identifier: Get Identifier
Gene: CFH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000512312.1:p.[Ile121_Gly133delinsLeuLysGluMetLysLysCysIleValGlnThrMetVal;Trp135_Ser136delinsGlyVal;Glu138_Cys142delinsArgAsnGlnSer;Glu144_Ser149delinsTrpLysPheHisAlaAsn;Pro150_Asp151insGln]
CA2586964481
ENST00000695987.1:c.361del