ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825358431
Gene: CPT1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2142299
ClinVar RCV Id:
RCV003076281
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001027017.1:p.Pro523Leu
CA6152274
NM_001031847.3:c.1568C>T