Canonical Allele Identifier: PA094150
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 496081
ClinVar RCV Id: RCV000589122 RCV001212081
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Asp438Asn
CA342713229
NM_000157.4:c.1312G>A