Canonical Allele Identifier: PA253121
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4335

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Asp482Asn
CA253118
NM_000157.4:c.1444G>A