ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826088932
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001004134
RCV002282424
ClinVar Variation:
813341
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Arg121His
CA1141729
NM_001171812.2:c.362G>A