ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829598335
Gene: KARS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005539.1:p.Arg393Gln
CA8177364
NM_005548.3:c.1178G>A