ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580368769
Gene: COG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2063121
ClinVar RCV Id:
RCV002948215
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031383.1:p.Arg291Gln
CA1447563
NM_007357.3:c.872G>A