ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828095879
Gene: HARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
214545
ClinVar RCV Id:
RCV000725134
RCV002517224
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350465.1:p.Ile249Thr
CA321328
NM_001363536.2:c.746T>C