Canonical Allele Identifier: PA2828093931
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 41739
ClinVar RCV Id: RCV000034656 RCV000215282 RCV001081977
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Ala1283Val
CA019876
NM_001363528.2:c.3848C>T