Canonical Allele Identifier: PA645433109
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406094
ClinVar RCV Id: RCV000463902 RCV000571612
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser1085Leu
CA16614705
NM_000548.5:c.3254C>T