Canonical Allele Identifier: PA2828415378
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49348
ClinVar RCV Id: RCV000042608 RCV000441153 RCV000565772 RCV001079156
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser1660Thr
CA021746
NM_001370404.1:c.4978T>A