Canonical Allele Identifier: PA2828418124
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 384076
ClinVar RCV Id: RCV000439541 RCV000470228 RCV001014141 RCV004000404
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Pro677Leu
CA035873
NM_001370405.1:c.2030C>T