ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093942
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4323
ClinVar RCV Id:
RCV000004567
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000148.2:p.Arg392Gly
CA253101
NM_000157.4:c.1174C>G