Canonical Allele Identifier: PA2828092964
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49565
ClinVar RCV Id: RCV000042825 RCV000163970 RCV000122221 RCV000727358 RCV001086743 RCV004541223
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Val1004Ala
CA018645
NM_001363528.2:c.3011T>C