ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA320113
Gene: AARS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_065796.1:p.Arg199Cys
NM_020745.3:c.595C>T