Canonical Allele Identifier: PA658680318
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_000539.2:p.Ser174Leu
CA054487
NM_000548.5:c.521C>T