ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916049480
Gene: COG6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065802.1:p.Gly549Cys
CA6958722
NM_020751.3:c.1645G>T