ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645427189
Gene: COG8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
286530
ClinVar RCV Id:
RCV000334221
RCV000381358
RCV002519235
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_115758.3:p.Arg336Trp
CA8133807
NM_032382.5:c.1006C>T