ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088761
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000589122
RCV001212081
ClinVar Variation:
496081
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Asp351Asn
CA342713229
NM_001171811.2:c.1051G>A