Canonical Allele Identifier: PA2828421540
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49929
ClinVar RCV Id: RCV000043196 RCV000693889
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro1666Leu
CA021795
NM_001370405.1:c.4997C>T