ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828689214
Gene: FANCI
HGNC
NCBI
Linked Data
ClinVar Variation Id:
238321
ClinVar RCV Id:
RCV000233382
RCV001119128
RCV003967621
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001363840.1:p.Thr1079Met
CA7723642
NM_001376911.1:c.3236C>T