ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499288443
Gene: FANCE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1044189
ClinVar RCV Id:
RCV001348403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_068741.1:p.His229Tyr
CA3771464
NM_021922.3:c.685C>T