ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580267737
Gene: GFPT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002047.2:p.Gly204Asp
CA347130266
NM_002056.4:c.611G>A