ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827354988
Gene: GUF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2787119
ClinVar RCV Id:
RCV003660577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001332797.1:p.Gly160Arg
CA356761360
NM_001345868.2:c.478G>C