ClinGen Allele Registry
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Canonical Allele Identifier:
PA094393
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
19335
ClinVar RCV:
RCV000004532
RCV000781409
ClinVar Variation:
4296
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000148.2:p.Gly85Glu
CA253063
NM_000157.4:c.254G>A