ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828475738
Gene: FANCD2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000232279
RCV000238670
RCV002274950
RCV003967666
ClinVar Variation:
241740
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361182.1:p.Ala329Gly
CA2249427
NM_001374253.1:c.986C>G