ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828817776
Gene: COG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2914898
ClinVar RCV Id:
RCV003609868
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366192.1:p.Asp45His
CA8134050
NM_001379263.1:c.133G>C