Canonical Allele Identifier: PA2827006469
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468192
ClinVar RCV Id: RCV000528235 RCV001019094 RCV001355181 RCV003999343
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Leu260Phe
CA394315433
NM_001318829.2:c.778C>T