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: PA2827026355

Gene: EIF2B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 287459

ClinVar RCV Id: RCV000339634 RCV000765662

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305897.1:p.Arg272Trp	CA1576579 NM_001318968.2:c.814C>T