Canonical Allele Identifier: PA2825438579
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 49925
ClinVar RCV Id: RCV000043192 RCV000474980 RCV001022469 RCV001086757
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001070651.1:p.Asp1411His
CA020460
NM_001077183.3:c.4231G>C