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: PA2826088675

Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199044

ClinVar RCV Id: RCV000252989 RCV000414984 RCV000415387 RCV000487503 RCV000415149 RCV001248923 RCV001509572 RCV001836745

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165282.1:p.Glu278Lys	CA028579 NM_001171811.2:c.[832G>A;274G>C] CA275447 NM_001171811.2:c.832G>A