ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139725386
Gene: CPT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
953482
ClinVar RCV Id:
RCV001225780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317518.1:p.Leu244del
CA1167215158
NM_001330589.2:c.729_731del