ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA101020
Gene: CPT2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
130890
ClinVar RCV Id:
RCV000202475
RCV000591616
RCV003453044
RCV003453045
RCV003453046
RCV003453047
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000089.1:p.Gly549Asp
CA347728
NM_000098.3:c.1646G>A