Canonical Allele Identifier: PA915991787
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 65570
ClinVar RCV Id: RCV000055774 RCV000179355
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Arg72Trp
CA221398
NM_001171811.2:c.214C>T