Canonical Allele Identifier: PA2827019101
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 648981
ClinVar RCV Id: RCV000803826
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Asn1172Lys
CA394291415
NM_001318832.2:c.3516C>A
CA394291418
NM_001318832.2:c.3516C>G