ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573069373
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1319518
ClinVar RCV Id:
RCV003237518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273096.1:p.Ser1383Ile
CA397484291
NM_001286167.3:c.4148G>T