Canonical Allele Identifier: PA253113
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4329
ClinVar RCV Id: RCV000004574 RCV000020155
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Arg170Leu
CA253112
NM_001005741.2:c.509G>T