ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825277681
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4321
ClinVar RCV Id:
RCV000004565
RCV000589792
RCV001507457
RCV002247245
RCV002251874
RCV002476927
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005742.1:p.Arg87Trp
CA253098
NM_001005742.2:c.259C>T