Canonical Allele Identifier: PA2828057572
Gene: COQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1389440
ClinVar RCV Id: RCV001917364

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001345850.1:p.Ser181Arg
CA357230121
NM_001358921.2:c.543T>G
CA357230122
NM_001358921.2:c.543T>A
CA357230135
NM_001358921.2:c.541A>C