Canonical Allele Identifier: PA253093
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4317
ClinVar RCV Id: RCV000004561
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Trp351Cys
CA253092
NM_001005741.2:c.1053G>T
CA342717576
NM_001005741.2:c.1053G>C