Canonical Allele Identifier: PA2741812955
Gene: CFH HGNC NCBI

Linked Data

ClinVar Variation Id: 2682449
ClinVar RCV Id: RCV003479822

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000177.2:p.Ser452Arg
CA343981575
NM_000186.4:c.1354A>C
CA343981587
NM_000186.4:c.1356T>A
CA343981588
NM_000186.4:c.1356T>G