Canonical Allele Identifier: PA2827020330
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49317
ClinVar RCV Id: RCV000042577 RCV000545050 RCV001022958 RCV001697037
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Thr1520Met
CA020954
NM_001318832.2:c.4559C>T