Allele Registry

Canonical Allele Identifier: PA2826018426

Gene: HMGCS2 HGNC NCBI

ClinVar RCV:

RCV000522718

RCV000805374

ClinVar Variation:

452101

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159579.1:p.Arg459Pro	CA30269195 NM_001166107.1:c.1376G>C