Canonical Allele Identifier: PA645425145
Gene: CFH HGNC NCBI

Linked Data

ClinVar Variation Id: 294493
ClinVar RCV Id: RCV000269675 RCV000310698 RCV000364256 RCV000365181 RCV001508934
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000177.2:p.Asn516Lys
CA1305438
NM_000186.4:c.1548T>A
CA343982764
NM_000186.4:c.1548T>G