Canonical Allele Identifier: PA2828414698
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 950491
ClinVar RCV Id: RCV001222211 RCV003163715 RCV004010744
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Pro1473Leu
CA394303002
NM_001370404.1:c.4418C>T