Canonical Allele Identifier: PA915954883
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 281587
ClinVar RCV Id: RCV000275601 RCV001004132 RCV002290968 RCV003329161
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005742.1:p.Leu213Phe
CA1141709
NM_001005742.2:c.637C>T