ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827039378
Gene: FANCD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456346
ClinVar RCV Id:
RCV000540839
RCV003316681
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001306913.1:p.Ile559Val
CA2249762
NM_001319984.1:c.1675A>G