ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828568614
Gene: CFI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
27157
ClinVar RCV:
RCV000012901
RCV002465487
ClinVar Variation:
12118
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362210.1:p.His418Leu
CA121902
NM_001375281.1:c.1253A>T