ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825277718
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005742.1:p.Asp180Asn
CA342724120
NM_001005742.2:c.538G>A