Canonical Allele Identifier: PA2828418002
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50189
ClinVar RCV Id: RCV000043458 RCV000122211 RCV000202889 RCV000574169 RCV001703940
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Met649Thr
CA016283
NM_001370405.1:c.1946T>C