Canonical Allele Identifier: PA2828092191
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406028
ClinVar RCV Id: RCV000464898 RCV001764381 RCV004000701 RCV002446788
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Leu764Met
CA16615073
NM_001363528.2:c.2290C>A