ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA103852
Gene: KARS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000054525
RCV000627042
RCV001807772
ClinVar Variation:
60752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005539.1:p.Tyr145His
CA144648
NM_005548.3:c.433T>C