Canonical Allele Identifier: PA2828416399
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468149
ClinVar RCV Id: RCV000551476 RCV000590906 RCV001023750 RCV003883156
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ser174Leu
CA054487
NM_001370405.1:c.521C>T