ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088943
Gene: GBA1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Asp131Asn
CA342724120
NM_001171812.2:c.391G>A