ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA279566
Gene: FDPS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
217746
ClinVar RCV Id:
RCV000201791
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001995.1:p.Arg179Gln
CA279565
NM_002004.4:c.536G>A