ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825879711
Gene: COG2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1040914
ClinVar RCV Id:
RCV001344650
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138508.1:p.Arg453Gln
CA1447748
NM_001145036.2:c.1358G>A