ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028488
Gene: CPT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
580891
ClinVar RCV Id:
RCV000704563
RCV003453495
RCV003453497
RCV003117499
RCV003453496
RCV003453498
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317518.1:p.Arg350His
CA859113
NM_001330589.2:c.1049G>A