Canonical Allele Identifier: PA2828414818
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49478
ClinVar RCV Id: RCV000042738
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Tyr1505Asn
CA020806
NM_001370404.1:c.4513T>A