Canonical Allele Identifier: PA658802625
Gene: EARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 521148
ClinVar RCV Id: RCV000623616

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077083.1:p.His229Gln
CA395133988
NM_001083614.1:c.687C>G
CA395133991
NM_001083614.1:c.687C>A