Canonical Allele Identifier: PA2829983823
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 486634
ClinVar RCV Id: RCV000569459 RCV000702221 RCV001532311
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Pro1723Ser
CA054989
NM_021055.3:c.5167C>T