Canonical Allele Identifier: PA2826088651
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4305
ClinVar RCV Id: RCV000004547
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Pro241Leu
CA253072
NM_001171811.2:c.722C>T