ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA119345
Gene: KARS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
8169
ClinVar RCV Id:
RCV000008647
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001123561.1:p.Leu133His
CA119343
NM_001130089.2:c.398T>A