ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828817758
Gene: COG8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366191.1:p.Pro590Ser
CA396476124
NM_001379262.1:c.1768C>T