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: PA915955021

Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4293

ClinVar RCV Id: RCV000004522 RCV000004523 RCV000004524 RCV000004525 RCV000004526 RCV000055773 RCV000079338 RCV000762853 RCV001004114 RCV001836695 RCV004018557

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001005742.1:p.Asp448His	CA028618 NM_001005742.2:c.[1342G>C;882T>G] CA221392 NM_001005742.2:c.1342G>C