Canonical Allele Identifier: PA2827015972
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 468118
ClinVar RCV Id: RCV000524930 RCV001023171 RCV003999320
ClinVar Variation Id: 1415786
ClinVar RCV Id: RCV001921077 RCV003167182 RCV004529046
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Thr1379Ser
CA052981
NM_001318831.2:c.4135A>T
CA394308289
NM_001318831.2:c.4136C>G