Canonical Allele Identifier: PA2827006613
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207711
ClinVar RCV Id: RCV000230966 RCV000568549 RCV001721235 RCV001118951
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305758.1:p.Glu317Lys
CA028150
NM_001318829.2:c.949G>A