ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825880256
Gene: COG6
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001138551.1:p.Val244Ile
CA6958429
NM_001145079.2:c.730G>A