Allele Registry

Canonical Allele Identifier: PA144650

Gene: KARS1 HGNC NCBI

ClinVar RCV:

RCV000054525

RCV000627042

RCV001807772

ClinVar Variation:

60752

HGVS (amino-acid)	Matching Registered Transcripts
NP_001123561.1:p.Tyr173His	CA144648 NM_001130089.2:c.517T>C