ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828478570
Gene: FANCD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
861648
ClinVar RCV Id:
RCV001068215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361183.1:p.Val1115Ile
CA2250364
NM_001374254.1:c.3343G>A