ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA250423
Gene: ACO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
218317
ClinVar RCV Id:
RCV000202542
RCV001550253
RCV003993888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001089.1:p.Pro712Leu
CA250422
NM_001098.3:c.2135C>T