Canonical Allele Identifier: PA2829978253
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 452351
ClinVar RCV Id: RCV000521882
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Thr1016Ser
CA394285482
NM_021055.3:c.3046A>T
CA394285499
NM_021055.3:c.3047C>G