ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088800
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99356
ClinVar RCV:
RCV000414719
RCV000663363
RCV000781411
RCV001004111
RCV001248963
RCV001808310
RCV003335096
ClinVar Variation:
93449
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Leu396Arg
CA16040607
NM_001171811.2:c.1187T>G