Canonical Allele Identifier: PA2825514629
Gene: EARS2 HGNC NCBI
ClinVar RCV:
RCV001954236
ClinVar Variation:
1462349
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077083.1:p.Ser306Cys
CA7962475
NM_001083614.1:c.917C>G