Canonical Allele Identifier: PA2829973128
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 513426
ClinVar RCV Id: RCV000644119 RCV001010952 RCV001719001 RCV004002563
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Leu448Val
CA394322581
NM_021055.3:c.1342C>G