Canonical Allele Identifier: PA2828416944
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65196
ClinVar RCV Id: RCV000055413 RCV000539242 RCV001355778 RCV000765261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Leu345Phe
CA013622
NM_001370405.1:c.1033C>T