Canonical Allele Identifier: PA2828415566
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1517318
ClinVar RCV Id: RCV002027265
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ile1703Phe
CA394314631
NM_001370404.1:c.5107A>T