Canonical Allele Identifier: PA916021000
Gene: EARS2 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001295140.1:p.Val234Leu
CA16606985
NM_001308211.1:c.700G>C
CA395133926
NM_001308211.1:c.700G>T