ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827039317
Gene: FANCD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456344
ClinVar RCV Id:
RCV000552393
RCV001092962
RCV000764453
RCV003488659
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306913.1:p.Ile450Val
CA2249616
NM_001319984.1:c.1348A>G