ClinGen Allele Registry
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Canonical Allele Identifier:
PA253109
Gene: GBA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
19366
ClinVar RCV:
RCV000004571
RCV000004572
RCV000055772
RCV000723428
RCV001004116
RCV001270486
RCV002482828
ClinVar Variation:
4327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165283.1:p.Gly367Ser
CA253107
NM_001171812.2:c.1099G>A