Canonical Allele Identifier: PA221380
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93444
ClinVar RCV Id: RCV000180536 RCV001248921 RCV000781410
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Asp354His
CA221379
NM_001005741.2:c.1060G>C