ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580236569
Gene: CFI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002933147
RCV003326020
ClinVar Variation:
2055075
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362212.1:p.Pro64Leu
CA3042338
NM_001375283.1:c.191C>T