Allele Registry

Canonical Allele Identifier: PA2827192079

Gene: ALDH18A1 HGNC NCBI

ClinVar RCV:

RCV000200956

RCV003389243

ClinVar Variation:

217116

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310347.1:p.Val130Leu	CA347465 NM_001323418.2:c.388G>C