Canonical Allele Identifier: PA2828411869
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1715424
ClinVar RCV Id: RCV002301218
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Glu650Ala
CA394273557
NM_001370404.1:c.1949A>C