Canonical Allele Identifier: PA2825068847
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420153
ClinVar RCV Id: RCV000487271 RCV001004120 RCV001584196 RCV001249080 RCV003419796
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Arg368Cys
CA1141619
NM_000157.4:c.1102C>T