ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827039400
Gene: FANCD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134313
ClinVar RCV Id:
RCV000120987
RCV000459559
RCV000764454
RCV001004843
RCV001541664
RCV003415914
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306913.1:p.Pro593Ser
CA159438
NM_001319984.1:c.1777C>T