ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658675949
Gene: COG6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065802.1:p.Glu233Lys
CA6958423
NM_020751.3:c.697G>A