Canonical Allele Identifier: PA2828413416
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41733
ClinVar RCV Id: RCV000034650 RCV000055184 RCV000122226 RCV000163263 RCV000989431 RCV004541070
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Val1100Met
CA019154
NM_001370404.1:c.3298G>A