Canonical Allele Identifier: PA2828413231
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64856
ClinVar RCV Id: RCV000055056 RCV000472588 RCV001019643 RCV001545684 RCV002496735
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ser1050Leu
CA018808
NM_001370404.1:c.3149C>T