Canonical Allele Identifier: PA2828095436
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 406110
ClinVar RCV Id: RCV000471307 RCV004022585
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350457.1:p.Glu1691Asp
CA16614803
NM_001363528.2:c.5073A>C
CA394315121
NM_001363528.2:c.5073A>T