ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA109018
Gene: OXCT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8164
ClinVar RCV Id:
RCV000008642
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000427.1:p.Cys456Phe
CA119339
NM_000436.4:c.1367G>T