ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828569216
Gene: CFI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
3395098
ClinVar RCV:
RCV004555240
ClinVar Variation:
3235979
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362212.1:p.Asp505Gly
CA357854665
NM_001375283.1:c.1514A>G