ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827005090
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000594599
RCV001852204
ClinVar Variation:
197025
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305756.1:p.His1537Pro
CA021276
NM_001318827.2:c.4610A>C