ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828569417
Gene: CFI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001362213.1:p.Ala331Val
CA357854595
NM_001375284.1:c.992C>T