Canonical Allele Identifier: PA2829971534
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_066399.2:p.Glu193Lys
CA055433
NM_021055.3:c.577G>A