ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827355246
Gene: GUF1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001332798.1:p.Ala285Ser
CA10586196
NM_001345869.2:c.853G>T