ClinGen Allele Registry
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Canonical Allele Identifier:
PA159268
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000120924
RCV000233082
RCV001333235
RCV002225374
RCV003952596
ClinVar Variation:
134251
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000126.2:p.Lys701Glu
CA159266
NM_000135.4:c.2101A>G