ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645506193
Gene: EARS2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001077083.1:p.Val292Ile
CA7962487
NM_001083614.1:c.874G>A