Canonical Allele Identifier: PA2827014894
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 135384
ClinVar RCV Id: RCV000122230 RCV000644130 RCV001021539 RCV003997366
ClinVar Variation Id: 2837265
ClinVar RCV Id: RCV003628312
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Glu1077Asp
CA019763
NM_001318831.2:c.3231G>C
CA394297480
NM_001318831.2:c.3231G>T