Canonical Allele Identifier: PA2825068836
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4325
ClinVar RCV Id: RCV000004569 RCV001781180
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.His350Arg
CA253105
NM_000157.4:c.1049A>G