ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388454
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236402
ClinVar RCV Id:
RCV000225643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Ala487Thr
CA10581616
NM_001005741.2:c.1459G>A