ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580236543
Gene: CFI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2151988
ClinVar RCV Id:
RCV003074927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362207.1:p.Ala460Ser
CA3041930
NM_001375278.1:c.1378G>T