Canonical Allele Identifier: PA2829981573
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 950491
ClinVar RCV Id: RCV001222211 RCV003163715 RCV004010744
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Pro1474Leu
CA394303002
NM_021055.3:c.4421C>T