ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499286549
Gene: AARS2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1204750
ClinVar RCV Id:
RCV001571192
RCV004039369
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065796.2:p.Ile824Thr
CA3833975
NM_020745.4:c.2471T>C