Canonical Allele Identifier: PA2827010392
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1745939
ClinVar RCV Id: RCV002338531 RCV003464468 RCV003512158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Pro1617Leu
CA394314204
NM_001318829.2:c.4850C>T