Canonical Allele Identifier: PA2828413892
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 64847
ClinVar RCV Id: RCV000055045 RCV000475134 RCV000164851 RCV001703956
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001357333.1:p.Val1247Ile
CA019604
NM_001370404.1:c.3739G>A