ClinGen Allele Registry
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Canonical Allele Identifier:
PA645510142
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_001123561.1:p.Arg421Gln
CA8177364
NM_001130089.2:c.1262G>A