Canonical Allele Identifier: PA093806
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4316
ClinVar RCV Id: RCV000004560
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Ala348Val
CA253090
NM_000157.4:c.1043C>T