Canonical Allele Identifier: PA2741992008
Gene: COG8 HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_115758.3:p.Asp45His
CA8134050
NM_032382.5:c.133G>C