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: PA094844

Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4289

ClinVar RCV Id: RCV000004514

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000148.2:p.Pro454Arg	CA253055 NM_000157.4:c.1361C>G