ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828687760
Gene: FANCI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456197
ClinVar RCV Id:
RCV000527436
RCV001770406
RCV002476094
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363839.1:p.Met511Val
CA7723159
NM_001376910.1:c.1531A>G