ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828835143
Gene: COG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366441.1:p.Arg729Met
CA4430596
NM_001379512.1:c.2186G>T