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
JSON-LD

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