ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825330002
Gene: FANCD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
414648
ClinVar RCV Id:
RCV000459636
RCV001293002
RCV001821327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018125.1:p.His377Arg
CA2249505
NM_001018115.2:c.1130A>G