ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828741435
Gene: KARS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
439842
ClinVar RCV Id:
RCV000506064
RCV000625381
RCV001375150
RCV004541585
RCV000755555
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365077.1:p.Arg237Gln
CA8177364
NM_001378148.1:c.710G>A