ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499273833
Gene: COG5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_006339.4:p.Gln829Ter
CA4430563
NM_006348.5:c.2485C>T