ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825329067
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
321370
ClinVar RCV Id:
RCV000371929
RCV002522902
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018122.1:p.Ala129Val
CA8253042
NM_001018112.2:c.386C>T