ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828834713
Gene: COG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366440.1:p.Ser747Pro
CA4430576
NM_001379511.1:c.2239T>C