Canonical Allele Identifier: PA2827003865
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41736
ClinVar RCV Id: RCV000034653 RCV000054864 RCV000122229 RCV000129666 RCV000231518
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305756.1:p.Ala1194Thr
CA019668
NM_001318827.2:c.3580G>A