Canonical Allele Identifier: PA2826088795
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2582864
ClinVar RCV Id: RCV003334107
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Lys393del
CA2573914545
NM_001171811.2:c.1179_1181del