ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828569213
Gene: CFI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
27165
ClinVar RCV:
RCV000012909
RCV002512998
ClinVar Variation:
12126
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362212.1:p.Asp500Asn
CA256223
NM_001375283.1:c.1498G>A