ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826088620
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4328
ClinVar RCV Id:
RCV000004573
RCV000020159
RCV000079357
RCV000762855
RCV001004125
RCV001836699
RCV003225017
RCV004554584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Arg209Gln
CA221417
NM_001171811.2:c.626G>A