Canonical Allele Identifier: PA916021008
Gene: EARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425101
ClinVar RCV Id: RCV000487917 RCV001121525 RCV002525993
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001295140.1:p.Glu349Lys
CA7962430
NM_001308211.1:c.1045G>A