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: PA2830348557

Gene: EIF2B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 4121

ClinVar RCV Id: RCV003221397

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_751945.2:p.Cys485Arg	CA116652 NM_172195.4:c.1453T>C