Canonical Allele Identifier: PA2829970861
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 467984
ClinVar RCV Id: RCV000575476 RCV000594514 RCV000761927 RCV001086235 RCV004537998
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Ala100Val
CA043693
NM_021055.3:c.299C>T