ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA112213
Gene: GFPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001231639.1:p.Arg111Cys
CA128605
NM_001244710.2:c.331C>T