Allele Registry

Canonical Allele Identifier: PA2826614552

Gene: HARS2 HGNC NCBI

ClinVar RCV:

RCV000206915

RCV002517027

ClinVar Variation:

208286

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265660.1:p.Val343Leu	CA350908 NM_001278731.2:c.1027G>T CA361201792 NM_001278731.2:c.1027G>C