Canonical Allele Identifier: PA253099
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4321
ClinVar RCV Id: RCV000004565 RCV000589792 RCV001507457 RCV002247245 RCV002251874 RCV002476927
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Arg87Trp
CA253098
NM_001005741.2:c.259C>T