Canonical Allele Identifier: PA2828089802
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207740
ClinVar RCV Id: RCV000190013 RCV001079014 RCV003150973 RCV002426919
ClinVar Variation Id: 1786560
ClinVar RCV Id: RCV002430525 RCV003626785
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Lys71Asn
CA036834
NM_001363528.2:c.213G>T
CA394303573
NM_001363528.2:c.213G>C