Canonical Allele Identifier: PA2827011144
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135371
ClinVar RCV Id: RCV000122207 RCV001012373 RCV001117452 RCV000951521 RCV003237731
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val485Leu
CA015286
NM_001318829.2:c.1453G>T
CA394267524
NM_001318829.2:c.1453G>C