Canonical Allele Identifier: PA2827008730
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535949
ClinVar RCV Id: RCV000644185 RCV003162914 RCV004004011
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser1078Leu
CA394289260
NM_001318829.2:c.3233C>T