ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827628320
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134289
ClinVar RCV Id:
RCV000120962
RCV000461615
RCV000664733
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338759.1:p.Ser176Leu
CA159367
NM_001351830.2:c.527C>T