Canonical Allele Identifier: PA2827010433
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405943
ClinVar RCV Id: RCV000595657 RCV000768353 RCV001085143 RCV001023772
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Arg1630Cys
CA054522
NM_001318829.2:c.4888C>T