ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251647
Gene: FANCI
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001106849.1:p.Arg1285Ter
NM_001113378.1:c.3853C>T