Canonical Allele Identifier: PA094535
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93449
ClinVar RCV Id: RCV001004111 RCV000414719 RCV000781411 RCV000663363 RCV001248963 RCV001808310 RCV003335096
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Leu483Arg
CA16040607
NM_000157.4:c.1448T>G