ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580127425
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005742.1:p.Gly282Glu
CA342720095
NM_001005742.2:c.845G>A