Canonical Allele Identifier: PA144650
Gene: KARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 60752
ClinVar RCV Id: RCV000054525 RCV000627042 RCV001807772
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Amino-acid Alleles

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