ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827354925
Gene: GUF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1494007
ClinVar RCV Id:
RCV002012787
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001332797.1:p.Ala16Thr
CA2905169
NM_001345868.2:c.46G>A