Canonical Allele Identifier: PA221397
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4330
ClinVar RCV Id: RCV000004575 RCV000004576 RCV000790694 RCV002281694
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001005741.1:p.Lys118Asn
CA221396
NM_001005741.2:c.354G>C
CA342726344
NM_001005741.2:c.354G>T