Canonical Allele Identifier: PA253060
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4292
ClinVar RCV Id: RCV000004521 RCV000004520 RCV000020148 RCV000762854 RCV001004115 RCV001382044 RCV001836694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Val433Leu
CA253059
NM_001005741.2:c.1297G>T
CA342713384
NM_001005741.2:c.1297G>C