Canonical Allele Identifier: PA2828418274
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49597
ClinVar RCV Id: RCV000042858 RCV000129683 RCV000227547 RCV001703935
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Arg718Pro
CA016844
NM_001370405.1:c.2153G>C