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: PA645400354

Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 407115

ClinVar RCV Id: RCV000462769 RCV000791420 RCV001531114 RCV002379438

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001108225.1:p.Gly331Ser	CA16612528 NM_001114753.3:c.991G>A