Allele Registry

Canonical Allele Identifier: PA2826644966

Gene: MDH2 HGNC NCBI

ClinVar RCV:

RCV000417059

RCV000496994

ClinVar Variation:

265770

HGVS (amino-acid)	Matching Registered Transcripts
NP_001269332.1:p.Pro165Leu	CA16044163 NM_001282403.2:c.494C>T