ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827341254
Gene: GBA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
241327
ClinVar RCV Id:
RCV000231814
RCV001084099
RCV001848007
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317589.1:p.Arg399Pro
CA5050485
NM_001330660.2:c.1196G>C