Canonical Allele Identifier: PA2828414210
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65358
ClinVar RCV Id: RCV000055582 RCV000575789 RCV000731274 RCV001083321 RCV004537249
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser1335Leu
CA019991
NM_001370404.1:c.4004C>T