Canonical Allele Identifier: PA2827011390
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535969
ClinVar RCV Id: RCV000644214 RCV001087283 RCV002449027 RCV004004015
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Val717Ala
CA038262
NM_001318829.2:c.2150T>C