ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139739530
Gene: GBA2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065995.1:p.Ala453Thr
CA5050436
NM_020944.3:c.1357G>A