Canonical Allele Identifier: PA2826088983
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93458
ClinVar RCV Id: RCV000079353 RCV001004130 RCV001249030
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165283.1:p.Asn178Lys
CA221409
NM_001171812.2:c.534T>G
CA342722149
NM_001171812.2:c.534T>A