ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826088584
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4315
ClinVar RCV Id:
RCV000004559
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Phe168Val
CA253088
NM_001171811.2:c.502T>G