Canonical Allele Identifier: PA2829980569
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 380381
ClinVar RCV Id: RCV000426687 RCV003626619
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Pro1346Ser
CA16607165
NM_021055.3:c.4036C>T