ClinGen Allele Registry
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Canonical Allele Identifier:
PA916014842
Gene: FANCA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134241
ClinVar RCV Id:
RCV000120914
RCV001120561
RCV001239310
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001273096.1:p.Arg350Gln
CA159238
NM_001286167.3:c.1049G>A