ClinGen Allele Registry
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Canonical Allele Identifier:
PA2741818590
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005742.1:p.Glu274Lys
CA342720368
NM_001005742.2:c.820G>A