ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645388425
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
236405
ClinVar RCV Id:
RCV000225638
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Ile466Ser
CA10581617
NM_001005741.2:c.1397T>G