ClinGen Allele Registry
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Canonical Allele Identifier:
PA645506190
Gene: EARS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001077083.1:p.Val234Leu
NM_001083614.1:c.700G>C
NM_001083614.1:c.700G>T