ClinGen Allele Registry
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Canonical Allele Identifier:
PA179910
Gene: COG6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138551.1:p.His300Tyr
CA179909
NM_001145079.2:c.898C>T