ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826089144
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001004118
ClinVar Variation:
813336
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Arg343Trp
CA342715091
NM_001171812.2:c.1027C>T