ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573070689
Gene: CPT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1310133
ClinVar RCV Id:
RCV001757201
RCV003451890
RCV003451892
RCV002544074
RCV003451889
RCV003451891
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317518.1:p.Arg350Gly
CA340394402
NM_001330589.2:c.1048C>G