Canonical Allele Identifier: PA645506190
Gene: EARS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 392792
ClinVar RCV Id: RCV000441862

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077083.1:p.Val234Leu
CA16606985
NM_001083614.1:c.700G>C
CA395133926
NM_001083614.1:c.700G>T