ClinGen Allele Registry
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Canonical Allele Identifier:
PA2580243815
Gene: COG8
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV002647314
ClinVar Variation:
2194054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366192.1:p.Gly539Glu
CA2580091882
NM_001379263.1:c.1616G>A