ClinGen Allele Registry
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Canonical Allele Identifier:
PA275448
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000252989
RCV000414984
RCV000415149
RCV000415387
RCV000487503
RCV001248923
RCV001509572
RCV001836745
ClinVar Variation:
199044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005741.1:p.Glu365Lys
CA028579
NM_001005741.2:c.[1093G>A;535G>C]
CA275447
NM_001005741.2:c.1093G>A