Canonical Allele Identifier: PA2828413912
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41736
ClinVar RCV Id: RCV000034653 RCV000054864 RCV000122229 RCV000129666 RCV000231518
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Ala1253Thr
CA019668
NM_001370404.1:c.3757G>A