ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088581
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4301
ClinVar RCV Id:
RCV000004540
RCV000004541
RCV000004542
RCV000020158
RCV000790654
RCV002482827
RCV004018559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Phe165Ile
CA221413
NM_001171811.2:c.493T>A