ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580260272
Gene: CPT1A
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002741757
ClinVar Variation:
1978287
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001867.2:p.Asp717Asn
CA6152059
NM_001876.4:c.2149G>A