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: PA253073

Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4305

ClinVar RCV Id: RCV000004547

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005741.1:p.Pro328Leu	CA253072 NM_001005741.2:c.983C>T