Canonical Allele Identifier: PA319552
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207762
ClinVar RCV Id: RCV000561869 RCV000713943 RCV001083713 RCV003996897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1756Lys
CA054884
NM_000548.5:c.5266G>A