ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100205
Gene: CPT1A
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001867.2:p.Thr314Ile
NM_001876.4:c.941C>T