ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916049275
Gene: AARS2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000489182
ClinVar Variation:
427119
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065796.2:p.Thr782Ile
CA364337105
NM_020745.4:c.2345C>T