ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828741454
Gene: KARS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001365077.1:p.Leu287Pro
CA396811409
NM_001378148.1:c.860T>C