Canonical Allele Identifier: PA2499276392
Gene: COG2 HGNC NCBI
ClinVar RCV:
RCV001344650
ClinVar Variation:
1040914
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_031383.1:p.Arg453Gln
CA1447748
NM_007357.3:c.1358G>A