ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA094835
Gene: CFC1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115934.1:p.Arg112Cys
CA281555
NM_032545.4:c.334C>T