ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA144650
Gene: KARS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123561.1:p.Tyr173His
CA144648
NM_001130089.2:c.517T>C