Canonical Allele Identifier: PA2827341240
Gene: GBA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 440972
ClinVar RCV Id: RCV000509470 RCV002524938
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001317589.1:p.Ala344Pro
CA5050536
NM_001330660.2:c.1030G>C