Canonical Allele Identifier: PA095147
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4292
ClinVar RCV Id: RCV000004521 RCV000004520 RCV000020148 RCV000762854 RCV001004115 RCV001382044 RCV001836694
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000148.2:p.Val433Leu
CA253059
NM_000157.4:c.1297G>T
CA342713384
NM_000157.4:c.1297G>C