Canonical Allele Identifier: PA2827007303
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135372
ClinVar RCV Id: RCV000122208 RCV000464888 RCV000561143 RCV001086928 RCV003997361
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ala558Val
CA015881
NM_001318829.2:c.1673C>T