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Canonical Allele Identifier: Get Identifier
Gene: CFH HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000512337.1:p.[Cys1024_Asn1032delinsLeuCysGluSer;Tyr1034_Val1036delinsHis;Arg1038_Lys1042delinsThrLysCysLeu;Pro1044del;Gly1046Val;Arg1048_Cys1053delinsThrAspGlu]
CA2573974076
ENST00000696028.1:c.3069dup