ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915954981
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
19362
ClinVar RCV:
RCV000004567
ClinVar Variation:
4323
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005742.1:p.Arg392Gly
CA253101
NM_001005742.2:c.1174C>G