Canonical Allele Identifier: PA2828413107
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 452351
ClinVar RCV Id: RCV000521882

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Thr1015Ser
CA394285482
NM_001370404.1:c.3043A>T
CA394285499
NM_001370404.1:c.3044C>G