ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828836650
Gene: COG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366445.1:p.Arg485Lys
CA368939017
NM_001379516.1:c.1454G>A