ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741990842
Gene: COG3
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_113619.3:p.Ser42Pro
CA388097627
NM_031431.4:c.124T>C