ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828818139
Gene: COG8
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366194.1:p.Pro531Ser
CA396476124
NM_001379265.1:c.1591C>T