Canonical Allele Identifier: PA2828414401
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 50124
ClinVar RCV Id: RCV000043391 RCV000543604 RCV001022275
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Arg1394Gln
CA020250
NM_001370404.1:c.4181G>A