Canonical Allele Identifier: PA2826088794
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 209103
ClinVar RCV Id: RCV000416583
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Lys393Asn
CA16044121
NM_001171811.2:c.1179G>C
CA342711620
NM_001171811.2:c.1179G>T