ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580260242
Gene: CPT1A
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2159597
ClinVar RCV Id:
RCV003087416
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001867.2:p.Ile491Val
CA381630086
NM_001876.4:c.1471A>G