Canonical Allele Identifier: PA2828411051
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50176
ClinVar RCV Id: RCV000043444 RCV000201101
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Pro419Ser
CA014179
NM_001370404.1:c.1255C>T