ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827341327
Gene: GBA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034369
RCV000515985
ClinVar Variation:
41485
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317589.1:p.Arg630Trp
CA130873
NM_001330660.2:c.1888C>T