ClinGen Allele Registry
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Canonical Allele Identifier:
PA221389
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Thr408Met
CA221388
NM_001005741.2:c.1223C>T