Canonical Allele Identifier: PA319523
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207749
ClinVar RCV Id: RCV000535896 RCV001021475 RCV001705074 RCV003996893
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1313Asp
CA049654
NM_000548.5:c.3939G>T
CA394297301
NM_000548.5:c.3939G>C