Canonical Allele Identifier: PA2827011900
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41724
ClinVar RCV Id: RCV000034641 RCV000055595 RCV000122202 RCV000163628 RCV000230505 RCV000714826
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ala157Val
CA013675
NM_001318831.2:c.470C>T