ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825439167
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
197025
ClinVar RCV Id:
RCV000594599
RCV001852204
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001070651.1:p.His1573Pro
CA021276
NM_001077183.3:c.4718A>C