Canonical Allele Identifier: PA645506097
Gene: EARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 318556
ClinVar RCV Id: RCV000314264 RCV000906961 RCV004549700
ClinVar Variation Id: 559205
ClinVar RCV Id: RCV000676419
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077083.1:p.Ala88Glu
CA7962659
NM_001083614.1:c.263C>A
CA658824405
NM_001083614.1:c.263_264delinsAA