Allele Registry

Canonical Allele Identifier: PA2826018398

Gene: HMGCS2 HGNC NCBI

ClinVar RCV:

RCV000520978

RCV002525119

ClinVar Variation:

449457

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159579.1:p.Gly346Arg	CA1037663 NM_001166107.1:c.1036G>A CA341858723 NM_001166107.1:c.1036G>C