Canonical Allele Identifier: PA221389
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93447
ClinVar RCV Id: RCV000079335 RCV000244995 RCV000416597 RCV001196545 RCV001249086
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Thr408Met
CA221388
NM_001005741.2:c.1223C>T