Canonical Allele Identifier: PA2827019166
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2497442
ClinVar RCV Id: RCV003213897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Pro1194_Leu1195del
CA2580091013
NM_001318832.2:c.3581_3586del