Canonical Allele Identifier: PA2828091707
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207723
ClinVar RCV Id: RCV000557012 RCV000570781 RCV001705070 RCV003996886 RCV003155114
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Arg639Trp
CA034455
NM_001363528.2:c.1915C>T