Canonical Allele Identifier: PA2828414662
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 432500
ClinVar RCV Id: RCV000497607 RCV001022632 RCV001078813
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser1463Phe
CA394302786
NM_001370404.1:c.4388C>T