Canonical Allele Identifier: PA2828421470
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49344
ClinVar RCV Id: RCV000042604 RCV000553605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Asp1647Tyr
CA021630
NM_001370405.1:c.4939G>T