ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828817972
Gene: COG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1516557
ClinVar RCV Id:
RCV002040869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366193.1:p.Gly340Ser
CA8133803
NM_001379264.1:c.1018G>A