ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057492559
Gene: CFI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005054042
ClinVar Variation:
3601999
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362213.1:p.Trp343Leu
CA357854500
NM_001375284.1:c.1028G>T