ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA159366
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134288
ClinVar RCV Id:
RCV000120961
RCV000672751
RCV002055335
RCV003477512
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000126.2:p.Leu185Ile
CA159364
NM_000135.4:c.553C>A