Canonical Allele Identifier: PA2828418525
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230946
ClinVar RCV Id: RCV000215219 RCV000458155 RCV001119143 RCV003153501
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357334.1:p.Val789Ile
CA038777
NM_001370405.1:c.2365G>A