ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828836350
Gene: COG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366444.1:p.Gln586Arg
CA4430602
NM_001379515.1:c.1757A>G