Canonical Allele Identifier: PA2829972380
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 65217
ClinVar RCV Id: RCV000055437 RCV001730486 RCV002381358
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_066399.2:p.Val334Ala
CA013517
NM_021055.3:c.1001T>C