ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827353061
Gene: CFI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
27161
ClinVar RCV:
RCV000012905
ClinVar Variation:
12122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317964.1:p.Asp517Val
CA256214
NM_001331035.2:c.1550A>T