Canonical Allele Identifier: PA2827026489
Gene: EIF2B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 591806
ClinVar RCV Id: RCV000722988

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305898.1:p.Asn249Lys
CA346196845
NM_001318969.2:c.747T>G
CA346196846
NM_001318969.2:c.747T>A