Canonical Allele Identifier: PA2828419280
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 428000
ClinVar RCV Id: RCV000491778 RCV000542621 RCV001577170 RCV004003437
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Thr1027Met
CA044749
NM_001370405.1:c.3080C>T