Canonical Allele Identifier: PA358204
Gene: KARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 224983
ClinVar RCV Id: RCV000986183 RCV001265601 RCV002463662 RCV003147413 RCV000210691 RCV000681462 RCV001293661 RCV001293662 RCV001526444 RCV001775672
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_005539.1:p.Pro200Leu
CA358202
NM_005548.3:c.599C>T