ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826089342
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4310
ClinVar RCV Id:
RCV000004552
RCV001171764
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Gly468Ser
CA253081
NM_001171812.2:c.1402G>A