Canonical Allele Identifier: PA319378
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 207679
ClinVar RCV Id: RCV000189924 RCV001053943 RCV002372158
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000539.2:p.Glu1343Asp
CA050218
NM_000548.5:c.4029G>C
CA394299242
NM_000548.5:c.4029G>T