Canonical Allele Identifier: PA645470281
Gene: GBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 241329
ClinVar RCV Id: RCV000229631 RCV001311779 RCV001331163 RCV001848008
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_065995.1:p.Arg518Trp
CA5050370
NM_020944.3:c.1552C>T