ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827354928
Gene: GUF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1513706
ClinVar RCV Id:
RCV002026304
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001332797.1:p.Ala19Ser
CA356759898
NM_001345868.2:c.55G>T