ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA358219
Gene: FANCA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000126.2:p.Cys981Arg
NM_000135.4:c.2941T>C