Canonical Allele Identifier: PA2828414552
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49925
ClinVar RCV Id: RCV000043192 RCV000474980 RCV001022469 RCV001086757
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Asp1434His
CA020460
NM_001370404.1:c.4300G>C