ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112163
Gene: FXN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000135.2:p.Ile154Phe
NM_000144.5:c.460A>T