Canonical Allele Identifier: PA2828817647
Gene: COG8 HGNC NCBI
ClinVar RCV:
RCV003609868
ClinVar Variation:
2914898
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366191.1:p.Asp45His
CA8134050
NM_001379262.1:c.133G>C