Canonical Allele Identifier: PA2827011844
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65196
ClinVar RCV Id: RCV000055413 RCV000539242 RCV001355778 RCV000765261
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Leu145Phe
CA013622
NM_001318831.2:c.433C>T