ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA031356
Gene: OXCT1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242800
ClinVar RCV Id:
RCV000530890
RCV000676890
RCV003907905
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000427.1:p.Thr58Met
CA031340
NM_000436.4:c.173C>T