Canonical Allele Identifier: PA253115
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4331
ClinVar RCV Id: RCV000004577
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Phe290Leu
CA253114
NM_001005741.2:c.870C>A
CA342719762
NM_001005741.2:c.870C>G
CA342719796
NM_001005741.2:c.868T>C