ClinGen Allele Registry
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Canonical Allele Identifier:
PA916014747
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
456131
ClinVar RCV Id:
RCV000551260
RCV001118712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273096.1:p.Ser176Phe
CA8252945
NM_001286167.3:c.527C>T