Canonical Allele Identifier: PA2827006966
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207716
ClinVar RCV Id: RCV000189981 RCV001857664
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Leu444Phe
CA319444
NM_001318829.2:c.1330C>T