Canonical Allele Identifier: PA915955023
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496800
ClinVar RCV Id: RCV000592466
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Phe450Ile
CA342712792
NM_001005742.2:c.1348T>A