ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827341348
Gene: GBA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
458301
ClinVar RCV Id:
RCV000526854
RCV001591201
RCV001848928
RCV003925598
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317589.1:p.Arg734His
CA5050161
NM_001330660.2:c.2201G>A