Canonical Allele Identifier: PA2828410927
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50164
ClinVar RCV Id: RCV000043432 RCV000572792 RCV000842561 RCV001084867
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Pro378Leu
CA013884
NM_001370404.1:c.1133C>T