ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA106219
Gene: GBA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41485
ClinVar RCV Id:
RCV000034369
RCV000515985
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065995.1:p.Arg630Trp
CA130873
NM_020944.3:c.1888C>T