ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA145525
Gene: GBA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
97569
ClinVar RCV:
RCV000077800
ClinVar Variation:
92166
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_065995.1:p.Asp594His
CA145524
NM_020944.3:c.1780G>C