Canonical Allele Identifier: PA915955027
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 801555
ClinVar RCV Id: RCV000986424 RCV002489455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Ser463Thr
CA342712232
NM_001005742.2:c.1388G>C