ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828568551
Gene: CFI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000012908
RCV001857336
RCV002496331
ClinVar Variation:
12125
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362210.1:p.Arg317Trp
CA256220
NM_001375281.1:c.949C>T