Canonical Allele Identifier: PA645436493
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406083
ClinVar RCV Id: RCV000457700 RCV001023824 RCV003463867 RCV004000717
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1757Lys
CA16615048
NM_000548.5:c.5269G>A