Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA2580204758

Gene: EIF2B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 2203030

ClinVar RCV Id: RCV002651446

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305894.1:p.Arg378Trp	CA1576662 NM_001318965.2:c.1132C>T