ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741887972
Gene: FDPS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001995.1:p.Arg48Cys
CA1144560
NM_002004.4:c.142C>T