Canonical Allele Identifier: PA1139692380
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 973205
ClinVar RCV Id: RCV001249599 RCV003294160
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Gln503His
CA394325789
NM_001318832.2:c.1509G>C
CA394325793
NM_001318832.2:c.1509G>T