Canonical Allele Identifier: PA2827020162
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1718303
ClinVar RCV Id: RCV002299719
ClinVar Variation Id: 2810197
ClinVar RCV Id: RCV003627812
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305761.1:p.Val1475Leu
CA394304492
NM_001318832.2:c.4423G>C
CA394304496
NM_001318832.2:c.4423G>T