ClinGen Allele Registry
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Canonical Allele Identifier:
PA248684
Gene: COG1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_061184.1:p.Thr350Met
CA248683
NM_018714.3:c.1049C>T