ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA275448
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001005741.1:p.Glu365Lys
NM_001005741.2:c.1093G>A
NM_001005741.2:c.1093G>A