Canonical Allele Identifier: PA2828060760
Gene: TSC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2806132
ClinVar RCV Id: RCV003613556
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349106.1:p.Thr752Ile
CA375369842
NM_001362177.1:c.2255C>T