Canonical Allele Identifier: PA2825880284
Gene: COG6 HGNC NCBI
ClinVar RCV:
RCV001343216
ClinVar Variation:
1039694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001138551.1:p.Val346Ile
CA387913432
NM_001145079.2:c.1036G>A