Canonical Allele Identifier: PA2827006107
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468149
ClinVar RCV Id: RCV000551476 RCV000590906 RCV001023750 RCV003883156
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ser125Leu
CA054487
NM_001318829.2:c.374C>T