Canonical Allele Identifier: PA645434658
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 405956
ClinVar RCV Id: RCV000458532 RCV000500804 RCV001022474 RCV004000678
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Ala1479Thr
CA16615031
NM_000548.5:c.4435G>A