Canonical Allele Identifier: PA2826088665
Gene: GBA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 4317
ClinVar RCV Id: RCV000004561
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001165282.1:p.Trp264Cys
CA253092
NM_001171811.2:c.792G>T
CA342717576
NM_001171811.2:c.792G>C