Canonical Allele Identifier: PA2828415462
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49949
ClinVar RCV Id: RCV000043216 RCV001366989 RCV002247426
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser1679Pro
CA022058
NM_001370404.1:c.5035T>C