Allele Registry

Canonical Allele Identifier: PA2825805682

Gene: EFTUD2 HGNC NCBI

ClinVar RCV:

RCV000023353

RCV001794462

ClinVar Variation:

30400

HGVS (amino-acid)	Matching Registered Transcripts
NP_001136077.1:p.Arg227Trp	CA259795 NM_001142605.2:c.679C>T