Allele Registry

Canonical Allele Identifier: PA120250

Gene: HMGCS2 HGNC NCBI

ClinVar Allele:

24296

ClinVar RCV:

RCV000009839

ClinVar Variation:

9257

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159579.1:p.Phe174Leu	CA120247 NM_001166107.1:c.520T>C CA341864203 NM_001166107.1:c.522C>G CA341864207 NM_001166107.1:c.522C>A