Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2828567621

Gene: CFI HGNC NCBI

Linked Data

ClinVar Variation Id: 66014

ClinVar RCV Id: RCV000056257 RCV000056258 RCV001439482 RCV001328281 RCV003147337

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362207.1:p.Gly119Arg	CA278398 NM_001375278.1:c.355G>A CA357864123 NM_001375278.1:c.355G>C