ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916001322
Gene: COG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
714468
ClinVar RCV Id:
RCV000886776
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_031383.1:p.Arg510Cys
CA1447789
NM_007357.3:c.1528C>T