ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825277509
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Thr173Asn
CA342724310
NM_001005741.2:c.518C>A