Canonical Allele Identifier: PA252972
Gene: FXN HGNC NCBI
ClinVar RCV:
RCV000004191
ClinVar Variation:
3984
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000135.2:p.Trp173Gly
CA252970
NM_000144.5:c.517T>G