Canonical Allele Identifier: PA2828414748
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 573348
ClinVar RCV Id: RCV000694999 RCV001022741 RCV003999632
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser1486Leu
CA394304471
NM_001370404.1:c.4457C>T