ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828479175
Gene: FANCD2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241738
ClinVar RCV Id:
RCV000228749
RCV000239243
RCV002274988
RCV003967665
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361184.1:p.Ile104Thr
CA2249178
NM_001374255.1:c.311T>C