ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828835551
Gene: COG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001366442.1:p.Leu683Pro
CA4430717
NM_001379513.1:c.2048T>C