Canonical Allele Identifier: PA221414
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4301
ClinVar RCV Id: RCV000004540 RCV000004541 RCV000004542 RCV000020158 RCV000790654 RCV002482827 RCV004018559
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Phe252Ile
CA221413
NM_001005741.2:c.754T>A