ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828167022
Gene: COG4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2296245
ClinVar RCV Id:
RCV002850285
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352355.1:p.Gln565Arg
CA396578579
NM_001365426.1:c.1694A>G