Canonical Allele Identifier: PA658680983
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_000539.2:p.Thr1059Ser
CA394285482
NM_000548.5:c.3175A>T
CA394285499
NM_000548.5:c.3176C>G