Canonical Allele Identifier: PA2828413826
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65034
ClinVar RCV Id: RCV000055239 RCV000231146 RCV000566058 RCV001711223
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1224His
CA019556
NM_001370404.1:c.3671G>A