Canonical Allele Identifier: PA2828090204
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207702
ClinVar RCV Id: RCV000189961 RCV000219746 RCV000698793 RCV003996877
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Glu193Lys
CA055433
NM_001363528.2:c.577G>A