ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580105576
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2116378
ClinVar RCV Id:
RCV003024691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000126.2:p.Ile1396Lys
CA397483698
NM_000135.4:c.4187T>A