Canonical Allele Identifier: PA915955031
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4288
ClinVar RCV Id: RCV000004510 RCV000004512 RCV000004509 RCV000004511 RCV000004513 RCV000020150 RCV000413257 RCV000626625 RCV001004112 RCV001197164 RCV002476924 RCV004018555 RCV003398445 RCV003987311
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Leu483Pro
CA116765
NM_001005742.2:c.1448T>C