ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828530049
Gene: FANCL
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2765449
ClinVar RCV Id:
RCV003522640
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361544.1:p.Ser77Pro
CA347034702
NM_001374615.1:c.229T>C