ClinGen Allele Registry
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Canonical Allele Identifier:
PA248786
Gene: ACO2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
189310
ClinVar RCV Id:
RCV000169730
RCV000676884
RCV000764399
RCV000990458
RCV002292437
RCV004535151
RCV003987393
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001089.1:p.Leu74Val
CA248785
NM_001098.3:c.220C>G