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: PA2826615493

Gene: ELN HGNC NCBI

Linked Data

ClinVar Variation Id: 419450

ClinVar RCV Id: RCV000486139

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001265842.1:p.Pro189Ser	CA16618557 NM_001278913.2:c.565C>T