ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826247265
Gene: CPT1C
HGNC
NCBI
Linked Data
ClinVar Variation Id:
542768
ClinVar RCV Id:
RCV000653259
RCV003907915
RCV004025900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001186682.1:p.Pro687Ala
CA9582404
NM_001199753.2:c.2059C>G