ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088583
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4298
ClinVar RCV Id:
RCV000004537
RCV000498055
RCV001004127
RCV001705580
RCV001248860
RCV002476925
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Phe168Tyr
CA253065
NM_001171811.2:c.503T>A