ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825329175
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
321369
ClinVar RCV Id:
RCV000280680
RCV000660417
RCV001753780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018122.1:p.Leu193Val
CA8252926
NM_001018112.2:c.577C>G