Canonical Allele Identifier: PA645434518
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406108
ClinVar RCV Id: RCV000458065 RCV001022436 RCV001529238 RCV004000720
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Arg1470Cys
CA051067
NM_000548.5:c.4408C>T