ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253078
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4308
ClinVar RCV Id:
RCV000004550
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Pro161Ser
CA253077
NM_001005741.2:c.481C>T