Canonical Allele Identifier: PA658805109
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 536037
ClinVar RCV Id: RCV000644311 RCV001023719 RCV003456111
ClinVar Variation Id: 825544
ClinVar RCV Id: RCV001023718 RCV001550915 RCV001797811
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Asp1734Asn
CA054398
NM_000548.5:c.5200G>A
CA915946265
NM_000548.5:c.5200_5202delinsAAC