Allele Registry

Canonical Allele Identifier: PA916043782

Gene: HARS2 HGNC NCBI

ClinVar RCV:

RCV000206915

RCV002517027

ClinVar Variation:

208286

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350464.1:p.Val374Leu	CA350908 NM_001363535.2:c.1120G>T CA361201792 NM_001363535.2:c.1120G>C