ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916049262
Gene: AARS2
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_065796.2:p.Val721Ala
NM_020745.4:c.2162T>C