ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499228740
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
997461
ClinVar RCV Id:
RCV001292617
RCV001859237
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000126.2:p.Val1393Met
CA8250696
NM_000135.4:c.4177G>A