ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA180264
Gene: OXCT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000427.1:p.Arg38Cys
CA180263
NM_000436.4:c.112C>T