Canonical Allele Identifier: PA2828418117
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467917
ClinVar RCV Id: RCV000554874 RCV000563982
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Ala675Leu
CA658658369
NM_001370405.1:c.2023_2024delinsTT