Canonical Allele Identifier: PA2827009186
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41739
ClinVar RCV Id: RCV000034656 RCV000215282 RCV001081977
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Ala1234Val
CA019876
NM_001318829.2:c.3701C>T