ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088841
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
21070
ClinVar RCV Id:
RCV000020152
RCV000409564
RCV000824058
RCV001004109
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Arg415His
CA341578
NM_001171811.2:c.1244G>A