Canonical Allele Identifier: PA2741818740
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582864
ClinVar RCV Id: RCV003334107
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Lys480del
CA2573914545
NM_001005742.2:c.1440_1442del