ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828135904
Gene: OXCT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001351228.1:p.Thr58Met
CA031340
NM_001364299.2:c.173C>T