Canonical Allele Identifier: PA2828414771
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1420522
ClinVar RCV Id: RCV001943559 RCV004044064
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Gln1492His
CA051927
NM_001370404.1:c.4476G>C
CA394304686
NM_001370404.1:c.4476G>T