ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828835150
Gene: COG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366441.1:p.Ser743Pro
CA4430576
NM_001379512.1:c.2227T>C