ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916044712
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_001351229.1:p.Cys463Phe
CA119339
NM_001364300.2:c.1388G>T