Canonical Allele Identifier: PA221391
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93448
ClinVar RCV Id: RCV000173717 RCV001249087 RCV001174722
ClinVar Variation Id: 1176205
ClinVar RCV Id: RCV001531641
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Val414Leu
CA221390
NM_001005741.2:c.1240G>T
CA342714108
NM_001005741.2:c.1240G>C