Canonical Allele Identifier: PA2826089261
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_001165283.1:p.Asp399His
CA028618
NM_001171812.2:c.[1195G>C;735T>G]
CA221392
NM_001171812.2:c.1195G>C