ClinGen Allele Registry
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Canonical Allele Identifier:
PA915991782
Gene: GBA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197702
ClinVar RCV Id:
RCV000178814
RCV001249027
RCV001808455
RCV004020131
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001165282.1:p.Ser59Leu
CA245985
NM_001171811.2:c.176C>T