ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825327904
Gene: FPGS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2374951
ClinVar RCV Id:
RCV004213072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001018088.1:p.Ala453Thr
CA5252503
NM_001018078.2:c.1357G>A