ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954955
Gene: GBA1
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001005742.1:p.Pro328Leu
NM_001005742.2:c.983C>T