Canonical Allele Identifier: PA2826089247
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496081
ClinVar RCV Id: RCV000589122 RCV001212081
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Asp389Asn
CA342713229
NM_001171812.2:c.1165G>A