Canonical Allele Identifier: PA253117
Gene: GBA1 HGNC NCBI
ClinVar RCV:
RCV000004578
ClinVar Variation:
4332
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Leu410Val
CA253116
NM_001005741.2:c.1228C>G