Canonical Allele Identifier: PA2828414577
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535928
ClinVar RCV Id: RCV000644158 RCV002331189 RCV004004004
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Thr1441Ile
CA051214
NM_001370404.1:c.4322C>T