Canonical Allele Identifier: PA2829981335
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_066399.2:p.Asp1435His
CA020460
NM_021055.3:c.4303G>C