ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828817712
Gene: COG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
285872
ClinVar RCV Id:
RCV000725740
RCV000820727
RCV004021185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366191.1:p.Gly360Glu
CA8133793
NM_001379262.1:c.1079G>A