ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828687490
Gene: FANCI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449021
ClinVar RCV Id:
RCV000523947
RCV000529696
RCV001118938
RCV001821453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363839.1:p.Ile182Thr
CA7722781
NM_001376910.1:c.545T>C