ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3057721829
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV005408289
ClinVar Variation:
3895867
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Ala328Thr
CA30894808
NM_001171812.2:c.982G>A