ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916077056
Gene: FXN
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_852090.1:p.Arg40Cys
NM_181425.3:c.118C>T