Canonical Allele Identifier: PA253106
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4325
ClinVar RCV Id: RCV000004569 RCV001781180
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.His350Arg
CA253105
NM_001005741.2:c.1049A>G