Canonical Allele Identifier: PA2828093242
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406072
ClinVar RCV Id: RCV000456897 RCV001020136 RCV001618706 RCV004533165
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg1084Trp
CA046408
NM_001363528.2:c.3250C>T