Canonical Allele Identifier: PA2827002392
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535969
ClinVar RCV Id: RCV000644214 RCV001087283 RCV002449027 RCV004004015
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Val729Ala
CA038262
NM_001318827.2:c.2186T>C