Canonical Allele Identifier: PA915954962
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4316
ClinVar RCV Id: RCV000004560
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Ala348Val
CA253090
NM_001005742.2:c.1043C>T