ClinGen Allele Registry
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Canonical Allele Identifier:
PA645404045
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
237034
ClinVar RCV Id:
RCV000226416
RCV001762513
RCV001094425
RCV003401165
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000126.2:p.Ser447Leu
CA8252400
NM_000135.4:c.1340C>T