Canonical Allele Identifier: PA253082
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4310
ClinVar RCV Id: RCV000004552 RCV001171764
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Gly517Ser
CA253081
NM_001005741.2:c.1549G>A