ClinGen Allele Registry
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Canonical Allele Identifier:
PA916015075
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134264
ClinVar RCV Id:
RCV000120937
RCV000351747
RCV000488415
RCV001094408
RCV001705888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273096.1:p.Ser1088Phe
CA159302
NM_001286167.3:c.3263C>T