ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580431254
Gene: FANCE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068741.1:p.Leu47Phe
CA363770352
NM_021922.3:c.139C>T