ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139725543
Gene: CPT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
875930
ClinVar RCV Id:
RCV001100232
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317518.1:p.Ser355Cys
CA340394438
NM_001330589.2:c.1064C>G