Allele Registry

Canonical Allele Identifier: PA916020986

Gene: EARS2 HGNC NCBI

ClinVar RCV:

RCV000033009

RCV000255688

RCV000622765

RCV000626746

RCV003156066

ClinVar Variation:

39787

HGVS (amino-acid)	Matching Registered Transcripts
NP_001295140.1:p.Arg108Trp	CA130557 NM_001308211.1:c.322C>T