ClinGen Allele Registry
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This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier:
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Gene: GBA1
HGNC
NCBI
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
XP_011507709.1:p.Asp448His
CA028618
XM_011509407.1:c.[1342G>C;882T>G]
CA221392
XM_011509407.1:c.1342G>C