Canonical Allele Identifier: PA319380
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207680
ClinVar RCV Id: RCV000471216 RCV000567838 RCV001082119 RCV003479052
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser1365Leu
CA050423
NM_000548.5:c.4094C>T