ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088667
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
93444
ClinVar RCV Id:
RCV000180536
RCV001248921
RCV000781410
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Asp267His
CA221379
NM_001171811.2:c.799G>C