Canonical Allele Identifier: PA341580
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21070
ClinVar RCV Id: RCV000020152 RCV000409564 RCV000824058 RCV001004109
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Arg502His
CA341578
NM_001005741.2:c.1505G>A