ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954944
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198757
ClinVar RCV Id:
RCV000180196
RCV001248862
RCV002500517
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005742.1:p.Ile299Thr
CA275428
NM_001005742.2:c.896T>C