ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828091104
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
50194
ClinVar RCV Id:
RCV000043463
RCV000807349
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Leu466Pro
CA014733
NM_001363528.2:c.1397T>C