Canonical Allele Identifier: PA1139676137
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 935997
ClinVar RCV Id: RCV001204707 RCV002339515
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ser1728Ile
CA394314110
NM_000548.5:c.5183G>T